UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.39394506T>A | CA352205284 | SLC25A38 | c.674T>A (p.Ile225Asn) c.671T>A (p.Ile224Asn) c.668T>A (p.Ile223Asn) c.*19T>A (n.*19T>A) c.722T>A (p.Ile241Asn) c.710T>A (p.Ile237Asn) c.704T>A (p.Ile235Asn) c.542T>A (p.Ile181Asn) c.626-1892T>A (n.626-1892T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394506T>C | CA2327537 | SLC25A38 | c.674T>C (p.Ile225Thr) c.671T>C (p.Ile224Thr) c.668T>C (p.Ile223Thr) c.*19T>C (n.*19T>C) c.722T>C (p.Ile241Thr) c.710T>C (p.Ile237Thr) c.704T>C (p.Ile235Thr) c.542T>C (p.Ile181Thr) c.626-1892T>C (n.626-1892T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394506T>G | CA352205288 | SLC25A38 | c.674T>G (p.Ile225Ser) c.671T>G (p.Ile224Ser) c.668T>G (p.Ile223Ser) c.*19T>G (n.*19T>G) c.722T>G (p.Ile241Ser) c.710T>G (p.Ile237Ser) c.704T>G (p.Ile235Ser) c.542T>G (p.Ile181Ser) c.626-1892T>G (n.626-1892T>G) | |
| 3 | g.39394506T= | CA1358939306 | SLC25A38 | c.674T= (p.Ile225=) c.671T= (p.Ile224=) c.668T= (p.Ile223=) c.*19T= (n.*19T=) c.722T= (p.Ile241=) c.710T= (p.Ile237=) c.704T= (p.Ile235=) c.542T= (p.Ile181=) c.626-1892T= (n.626-1892T=) | |
| 3 | g.39394507C>A | CA433164756 | SLC25A38 | c.675C>A (p.Ile225=) c.672C>A (p.Ile224=) c.669C>A (p.Ile223=) c.*20C>A (n.*20C>A) c.723C>A (p.Ile241=) c.711C>A (p.Ile237=) c.705C>A (p.Ile235=) c.543C>A (p.Ile181=) c.626-1891C>A (n.626-1891C>A) | |
| 3 | g.39394507C>G | CA352205293 | SLC25A38 | c.675C>G (p.Ile225Met) c.672C>G (p.Ile224Met) c.669C>G (p.Ile223Met) c.*20C>G (n.*20C>G) c.723C>G (p.Ile241Met) c.711C>G (p.Ile237Met) c.705C>G (p.Ile235Met) c.543C>G (p.Ile181Met) c.626-1891C>G (n.626-1891C>G) | |
| 3 | g.39394507C>T | CA433164759 | SLC25A38 | c.675C>T (p.Ile225=) c.672C>T (p.Ile224=) c.669C>T (p.Ile223=) c.*20C>T (n.*20C>T) c.723C>T (p.Ile241=) c.711C>T (p.Ile237=) c.705C>T (p.Ile235=) c.543C>T (p.Ile181=) c.626-1891C>T (n.626-1891C>T) | |
| 3 | g.39394508A>C | CA352205306 | SLC25A38 | c.676A>C (p.Lys226Gln) c.673A>C (p.Lys225Gln) c.670A>C (p.Lys224Gln) c.*21A>C (n.*21A>C) c.724A>C (p.Lys242Gln) c.712A>C (p.Lys238Gln) c.706A>C (p.Lys236Gln) c.544A>C (p.Lys182Gln) c.626-1890A>C (n.626-1890A>C) | gnomAD v4 |
| 3 | g.39394508A>G | CA352205312 | SLC25A38 | c.676A>G (p.Lys226Glu) c.673A>G (p.Lys225Glu) c.670A>G (p.Lys224Glu) c.*21A>G (n.*21A>G) c.724A>G (p.Lys242Glu) c.712A>G (p.Lys238Glu) c.706A>G (p.Lys236Glu) c.544A>G (p.Lys182Glu) c.626-1890A>G (n.626-1890A>G) | |
| 3 | g.39394508A>T | CA352205315 | SLC25A38 | c.676A>T (p.Lys226Ter) c.673A>T (p.Lys225Ter) c.670A>T (p.Lys224Ter) c.*21A>T (n.*21A>T) c.724A>T (p.Lys242Ter) c.712A>T (p.Lys238Ter) c.706A>T (p.Lys236Ter) c.544A>T (p.Lys182Ter) c.626-1890A>T (n.626-1890A>T) | |
| 3 | g.39394509A= | CA1358939307 | SLC25A38 | c.677A= (p.Lys226=) c.674A= (p.Lys225=) c.671A= (p.Lys224=) c.*22A= (n.*22A=) c.725A= (p.Lys242=) c.713A= (p.Lys238=) c.707A= (p.Lys236=) c.545A= (p.Lys182=) c.626-1889A= (n.626-1889A=) | |
| 3 | g.39394509A>C | CA352205317 | SLC25A38 | c.677A>C (p.Lys226Thr) c.674A>C (p.Lys225Thr) c.671A>C (p.Lys224Thr) c.*22A>C (n.*22A>C) c.725A>C (p.Lys242Thr) c.713A>C (p.Lys238Thr) c.707A>C (p.Lys236Thr) c.545A>C (p.Lys182Thr) c.626-1889A>C (n.626-1889A>C) | |
| 3 | g.39394509A>G | CA2327538 | SLC25A38 | c.677A>G (p.Lys226Arg) c.674A>G (p.Lys225Arg) c.671A>G (p.Lys224Arg) c.*22A>G (n.*22A>G) c.725A>G (p.Lys242Arg) c.713A>G (p.Lys238Arg) c.707A>G (p.Lys236Arg) c.545A>G (p.Lys182Arg) c.626-1889A>G (n.626-1889A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394509A>T | CA352205322 | SLC25A38 | c.677A>T (p.Lys226Ile) c.674A>T (p.Lys225Ile) c.671A>T (p.Lys224Ile) c.*22A>T (n.*22A>T) c.725A>T (p.Lys242Ile) c.713A>T (p.Lys238Ile) c.707A>T (p.Lys236Ile) c.545A>T (p.Lys182Ile) c.626-1889A>T (n.626-1889A>T) | |
| 3 | g.39394510A= | CA1358939308 | SLC25A38 | c.678A= (p.Lys226=) c.675A= (p.Lys225=) c.672A= (p.Lys224=) c.*23A= (n.*23A=) c.726A= (p.Lys242=) c.714A= (p.Lys238=) c.708A= (p.Lys236=) c.546A= (p.Lys182=) c.626-1888A= (n.626-1888A=) | |
| 3 | g.39394510A>C | CA352205330 | SLC25A38 | c.678A>C (p.Lys226Asn) c.675A>C (p.Lys225Asn) c.672A>C (p.Lys224Asn) c.*23A>C (n.*23A>C) c.726A>C (p.Lys242Asn) c.714A>C (p.Lys238Asn) c.708A>C (p.Lys236Asn) c.546A>C (p.Lys182Asn) c.626-1888A>C (n.626-1888A>C) | |
| 3 | g.39394510A>G | CA2327539 | SLC25A38 | c.678A>G (p.Lys226=) c.675A>G (p.Lys225=) c.672A>G (p.Lys224=) c.*23A>G (n.*23A>G) c.726A>G (p.Lys242=) c.714A>G (p.Lys238=) c.708A>G (p.Lys236=) c.546A>G (p.Lys182=) c.626-1888A>G (n.626-1888A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394510A>T | CA352205327 | SLC25A38 | c.678A>T (p.Lys226Asn) c.675A>T (p.Lys225Asn) c.672A>T (p.Lys224Asn) c.*23A>T (n.*23A>T) c.726A>T (p.Lys242Asn) c.714A>T (p.Lys238Asn) c.708A>T (p.Lys236Asn) c.546A>T (p.Lys182Asn) c.626-1888A>T (n.626-1888A>T) | |
| 3 | g.39394511A>C | CA352205333 | SLC25A38 | c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) c.673A>C (p.Thr225Pro) c.*24A>C (n.*24A>C) c.727A>C (p.Thr243Pro) c.715A>C (p.Thr239Pro) c.709A>C (p.Thr237Pro) c.547A>C (p.Thr183Pro) c.626-1887A>C (n.626-1887A>C) | |
| 3 | g.39394511A>G | CA352205336 | SLC25A38 | c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) c.673A>G (p.Thr225Ala) c.*24A>G (n.*24A>G) c.727A>G (p.Thr243Ala) c.715A>G (p.Thr239Ala) c.709A>G (p.Thr237Ala) c.547A>G (p.Thr183Ala) c.626-1887A>G (n.626-1887A>G) | |
| 3 | g.39394511A>T | CA352205341 | SLC25A38 | c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) c.673A>T (p.Thr225Ser) c.*24A>T (n.*24A>T) c.727A>T (p.Thr243Ser) c.715A>T (p.Thr239Ser) c.709A>T (p.Thr237Ser) c.547A>T (p.Thr183Ser) c.626-1887A>T (n.626-1887A>T) | |
| 3 | g.39394512C>A | CA352205345 | SLC25A38 | c.680C>A (p.Thr227Asn) c.677C>A (p.Thr226Asn) c.674C>A (p.Thr225Asn) c.*25C>A (n.*25C>A) c.728C>A (p.Thr243Asn) c.716C>A (p.Thr239Asn) c.710C>A (p.Thr237Asn) c.548C>A (p.Thr183Asn) c.626-1886C>A (n.626-1886C>A) | |
| 3 | g.39394512C= | CA1358939309 | SLC25A38 | c.680C= (p.Thr227=) c.677C= (p.Thr226=) c.674C= (p.Thr225=) c.*25C= (n.*25C=) c.728C= (p.Thr243=) c.716C= (p.Thr239=) c.710C= (p.Thr237=) c.548C= (p.Thr183=) c.626-1886C= (n.626-1886C=) | |
| 3 | g.39394512C>G | CA352205347 | SLC25A38 | c.680C>G (p.Thr227Ser) c.677C>G (p.Thr226Ser) c.674C>G (p.Thr225Ser) c.*25C>G (n.*25C>G) c.728C>G (p.Thr243Ser) c.716C>G (p.Thr239Ser) c.710C>G (p.Thr237Ser) c.548C>G (p.Thr183Ser) c.626-1886C>G (n.626-1886C>G) | |
| 3 | g.39394512C>T | CA352205350 | SLC25A38 | c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) c.674C>T (p.Thr225Ile) c.*25C>T (n.*25C>T) c.728C>T (p.Thr243Ile) c.716C>T (p.Thr239Ile) c.710C>T (p.Thr237Ile) c.548C>T (p.Thr183Ile) c.626-1886C>T (n.626-1886C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394513T>A | CA433164778 | SLC25A38 | c.681T>A (p.Thr227=) c.678T>A (p.Thr226=) c.675T>A (p.Thr225=) c.*26T>A (n.*26T>A) c.729T>A (p.Thr243=) c.717T>A (p.Thr239=) c.711T>A (p.Thr237=) c.549T>A (p.Thr183=) c.626-1885T>A (n.626-1885T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394513T>C | CA433164777 | SLC25A38 | c.681T>C (p.Thr227=) c.678T>C (p.Thr226=) c.675T>C (p.Thr225=) c.*26T>C (n.*26T>C) c.729T>C (p.Thr243=) c.717T>C (p.Thr239=) c.711T>C (p.Thr237=) c.549T>C (p.Thr183=) c.626-1885T>C (n.626-1885T>C) | |
| 3 | g.39394513T>G | CA433164775 | SLC25A38 | c.681T>G (p.Thr227=) c.678T>G (p.Thr226=) c.675T>G (p.Thr225=) c.*26T>G (n.*26T>G) c.729T>G (p.Thr243=) c.717T>G (p.Thr239=) c.711T>G (p.Thr237=) c.549T>G (p.Thr183=) c.626-1885T>G (n.626-1885T>G) | |
| 3 | g.39394513T= | CA1358939310 | SLC25A38 | c.681T= (p.Thr227=) c.678T= (p.Thr226=) c.675T= (p.Thr225=) c.*26T= (n.*26T=) c.729T= (p.Thr243=) c.717T= (p.Thr239=) c.711T= (p.Thr237=) c.549T= (p.Thr183=) c.626-1885T= (n.626-1885T=) | |
| 3 | g.39394514C>A | CA352205370 | SLC25A38 | c.682C>A (p.His228Asn) c.679C>A (p.His227Asn) c.676C>A (p.His226Asn) c.*27C>A (n.*27C>A) c.730C>A (p.His244Asn) c.718C>A (p.His240Asn) c.712C>A (p.His238Asn) c.550C>A (p.His184Asn) c.626-1884C>A (n.626-1884C>A) | |
| 3 | g.39394514C= | CA1358939311 | SLC25A38 | c.682C= (p.His228=) c.679C= (p.His227=) c.676C= (p.His226=) c.*27C= (n.*27C=) c.730C= (p.His244=) c.718C= (p.His240=) c.712C= (p.His238=) c.550C= (p.His184=) c.626-1884C= (n.626-1884C=) | |
| 3 | g.39394514C>G | CA352205353 | SLC25A38 | c.682C>G (p.His228Asp) c.679C>G (p.His227Asp) c.676C>G (p.His226Asp) c.*27C>G (n.*27C>G) c.730C>G (p.His244Asp) c.718C>G (p.His240Asp) c.712C>G (p.His238Asp) c.550C>G (p.His184Asp) c.626-1884C>G (n.626-1884C>G) | |
| 3 | g.39394514C>T | CA352205369 | SLC25A38 | c.682C>T (p.His228Tyr) c.679C>T (p.His227Tyr) c.676C>T (p.His226Tyr) c.*27C>T (n.*27C>T) c.730C>T (p.His244Tyr) c.718C>T (p.His240Tyr) c.712C>T (p.His238Tyr) c.550C>T (p.His184Tyr) c.626-1884C>T (n.626-1884C>T) | dbSNP |
| 3 | g.39394515A>C | CA352205371 | SLC25A38 | c.683A>C (p.His228Pro) c.680A>C (p.His227Pro) c.677A>C (p.His226Pro) c.*28A>C (n.*28A>C) c.731A>C (p.His244Pro) c.719A>C (p.His240Pro) c.713A>C (p.His238Pro) c.551A>C (p.His184Pro) c.626-1883A>C (n.626-1883A>C) | |
| 3 | g.39394515A>G | CA352205375 | SLC25A38 | c.683A>G (p.His228Arg) c.680A>G (p.His227Arg) c.677A>G (p.His226Arg) c.*28A>G (n.*28A>G) c.731A>G (p.His244Arg) c.719A>G (p.His240Arg) c.713A>G (p.His238Arg) c.551A>G (p.His184Arg) c.626-1883A>G (n.626-1883A>G) | |
| 3 | g.39394515A>T | CA352205376 | SLC25A38 | c.683A>T (p.His228Leu) c.680A>T (p.His227Leu) c.677A>T (p.His226Leu) c.*28A>T (n.*28A>T) c.731A>T (p.His244Leu) c.719A>T (p.His240Leu) c.713A>T (p.His238Leu) c.551A>T (p.His184Leu) c.626-1883A>T (n.626-1883A>T) | |
| 3 | g.39394517_39394518del | CA2665162993 | SLC25A38 | c.685_686del (p.Met229AlafsTer?) c.682_683del (p.Met228AlafsTer?) c.679_680del (p.Met227AlafsTer?) c.*30_*31del (n.*30_*31del) c.733_734del (p.Met245AlafsTer?) c.721_722del (p.Met241AlafsTer?) c.715_716del (p.Met239AlafsTer?) c.553_554del (p.Met185AlafsTer?) c.626-1881_626-1880del (n.626-1881_626-1880del) | gnomAD v4 |
| 3 | g.39394516T>A | CA352205377 | SLC25A38 | c.684T>A (p.His228Gln) c.681T>A (p.His227Gln) c.678T>A (p.His226Gln) c.*29T>A (n.*29T>A) c.732T>A (p.His244Gln) c.720T>A (p.His240Gln) c.714T>A (p.His238Gln) c.552T>A (p.His184Gln) c.626-1882T>A (n.626-1882T>A) | gnomAD v4 |
| 3 | g.39394516T>C | CA433164786 | SLC25A38 | c.684T>C (p.His228=) c.681T>C (p.His227=) c.678T>C (p.His226=) c.*29T>C (n.*29T>C) c.732T>C (p.His244=) c.720T>C (p.His240=) c.714T>C (p.His238=) c.552T>C (p.His184=) c.626-1882T>C (n.626-1882T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394516T>G | CA352205378 | SLC25A38 | c.684T>G (p.His228Gln) c.681T>G (p.His227Gln) c.678T>G (p.His226Gln) c.*29T>G (n.*29T>G) c.732T>G (p.His244Gln) c.720T>G (p.His240Gln) c.714T>G (p.His238Gln) c.552T>G (p.His184Gln) c.626-1882T>G (n.626-1882T>G) | |
| 3 | g.39394516T= | CA1358939312 | SLC25A38 | c.684T= (p.His228=) c.681T= (p.His227=) c.678T= (p.His226=) c.*29T= (n.*29T=) c.732T= (p.His244=) c.720T= (p.His240=) c.714T= (p.His238=) c.552T= (p.His184=) c.626-1882T= (n.626-1882T=) | |
| 3 | g.39394517A>C | CA352205379 | SLC25A38 | c.685A>C (p.Met229Leu) c.682A>C (p.Met228Leu) c.679A>C (p.Met227Leu) c.*30A>C (n.*30A>C) c.733A>C (p.Met245Leu) c.721A>C (p.Met241Leu) c.715A>C (p.Met239Leu) c.553A>C (p.Met185Leu) c.626-1881A>C (n.626-1881A>C) | |
| 3 | g.39394517A>G | CA352205381 | SLC25A38 | c.685A>G (p.Met229Val) c.682A>G (p.Met228Val) c.679A>G (p.Met227Val) c.*30A>G (n.*30A>G) c.733A>G (p.Met245Val) c.721A>G (p.Met241Val) c.715A>G (p.Met239Val) c.553A>G (p.Met185Val) c.626-1881A>G (n.626-1881A>G) | |
| 3 | g.39394517A>T | CA352205380 | SLC25A38 | c.685A>T (p.Met229Leu) c.682A>T (p.Met228Leu) c.679A>T (p.Met227Leu) c.*30A>T (n.*30A>T) c.733A>T (p.Met245Leu) c.721A>T (p.Met241Leu) c.715A>T (p.Met239Leu) c.553A>T (p.Met185Leu) c.626-1881A>T (n.626-1881A>T) | |
| 3 | g.39394518T>A | CA352205382 | SLC25A38 | c.686T>A (p.Met229Lys) c.683T>A (p.Met228Lys) c.680T>A (p.Met227Lys) c.*31T>A (n.*31T>A) c.734T>A (p.Met245Lys) c.722T>A (p.Met241Lys) c.716T>A (p.Met239Lys) c.554T>A (p.Met185Lys) c.626-1880T>A (n.626-1880T>A) | |
| 3 | g.39394518T>C | CA352205385 | SLC25A38 | c.686T>C (p.Met229Thr) c.683T>C (p.Met228Thr) c.680T>C (p.Met227Thr) c.*31T>C (n.*31T>C) c.734T>C (p.Met245Thr) c.722T>C (p.Met241Thr) c.716T>C (p.Met239Thr) c.554T>C (p.Met185Thr) c.626-1880T>C (n.626-1880T>C) | gnomAD v4 |
| 3 | g.39394518T>G | CA352205384 | SLC25A38 | c.686T>G (p.Met229Arg) c.683T>G (p.Met228Arg) c.680T>G (p.Met227Arg) c.*31T>G (n.*31T>G) c.734T>G (p.Met245Arg) c.722T>G (p.Met241Arg) c.716T>G (p.Met239Arg) c.554T>G (p.Met185Arg) c.626-1880T>G (n.626-1880T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394518T= | CA1358939313 | SLC25A38 | c.686T= (p.Met229=) c.683T= (p.Met228=) c.680T= (p.Met227=) c.*31T= (n.*31T=) c.734T= (p.Met245=) c.722T= (p.Met241=) c.716T= (p.Met239=) c.554T= (p.Met185=) c.626-1880T= (n.626-1880T=) | |
| 3 | g.39394519G>A | CA352205388 | SLC25A38 | c.687G>A (p.Met229Ile) c.684G>A (p.Met228Ile) c.681G>A (p.Met227Ile) c.*32G>A (n.*32G>A) c.735G>A (p.Met245Ile) c.723G>A (p.Met241Ile) c.717G>A (p.Met239Ile) c.555G>A (p.Met185Ile) c.626-1879G>A (n.626-1879G>A) | |
| 3 | g.39394519G>C | CA352205391 | SLC25A38 | c.687G>C (p.Met229Ile) c.684G>C (p.Met228Ile) c.681G>C (p.Met227Ile) c.*32G>C (n.*32G>C) c.735G>C (p.Met245Ile) c.723G>C (p.Met241Ile) c.717G>C (p.Met239Ile) c.555G>C (p.Met185Ile) c.626-1879G>C (n.626-1879G>C) |