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 |
|---|---|---|---|---|---|
| 14 | g.87968390del | CA2695219635 | GALC | c.853del (p.Ala285GlnfsTer8) c.784del (p.Ala262GlnfsTer8) c.775del (p.Ala259GlnfsTer8) n.843del c.685del (p.Ala229GlnfsTer8) c.220del (p.Ala74GlnfsTer8) c.*251del (n.*251del) c.843del | |
| 14 | g.87968390C>A | CA390747856 | GALC | c.853G>T (p.Ala285Ser) c.784G>T (p.Ala262Ser) c.775G>T (p.Ala259Ser) n.843G>T c.685G>T (p.Ala229Ser) c.220G>T (p.Ala74Ser) c.*251G>T (n.*251G>T) c.843G>T | gnomAD v4 |
| 14 | g.87968390C>G | CA390747858 | GALC | c.853G>C (p.Ala285Pro) c.784G>C (p.Ala262Pro) c.775G>C (p.Ala259Pro) n.843G>C c.685G>C (p.Ala229Pro) c.220G>C (p.Ala74Pro) c.*251G>C (n.*251G>C) c.843G>C | |
| 14 | g.87968390C>T | CA390747857 | GALC | c.853G>A (p.Ala285Thr) c.784G>A (p.Ala262Thr) c.775G>A (p.Ala259Thr) n.843G>A c.685G>A (p.Ala229Thr) c.220G>A (p.Ala74Thr) c.*251G>A (n.*251G>A) c.843G>A | COSMIC COSMIC |
| 14 | g.87968391A>C | CA487365379 | GALC | c.852T>G (p.Gly284=) c.783T>G (p.Gly261=) c.774T>G (p.Gly258=) n.842T>G c.684T>G (p.Gly228=) c.219T>G (p.Gly73=) c.*250T>G (n.*250T>G) c.842T>G | |
| 14 | g.87968391A>G | CA487365380 | GALC | c.852T>C (p.Gly284=) c.783T>C (p.Gly261=) c.774T>C (p.Gly258=) n.842T>C c.684T>C (p.Gly228=) c.219T>C (p.Gly73=) c.*250T>C (n.*250T>C) c.842T>C | |
| 14 | g.87968391A>T | CA487365382 | GALC | c.852T>A (p.Gly284=) c.783T>A (p.Gly261=) c.774T>A (p.Gly258=) n.842T>A c.684T>A (p.Gly228=) c.219T>A (p.Gly73=) c.*250T>A (n.*250T>A) c.842T>A | |
| 14 | g.87968392C>A | CA390747860 | GALC | c.851G>T (p.Gly284Val) c.782G>T (p.Gly261Val) c.773G>T (p.Gly258Val) n.841G>T c.683G>T (p.Gly228Val) c.218G>T (p.Gly73Val) c.*249G>T (n.*249G>T) c.841G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87968392C= | CA2153346456 | GALC | c.851G= (p.Gly284=) c.782G= (p.Gly261=) c.773G= (p.Gly258=) n.841G= c.683G= (p.Gly228=) c.218G= (p.Gly73=) c.*249G= (n.*249G=) c.841G= | |
| 14 | g.87968392C>G | CA390747864 | GALC | c.851G>C (p.Gly284Ala) c.782G>C (p.Gly261Ala) c.773G>C (p.Gly258Ala) n.841G>C c.683G>C (p.Gly228Ala) c.218G>C (p.Gly73Ala) c.*249G>C (n.*249G>C) c.841G>C | |
| 14 | g.87968392C>T | CA390747862 | GALC | c.851G>A (p.Gly284Asp) c.782G>A (p.Gly261Asp) c.773G>A (p.Gly258Asp) n.841G>A c.683G>A (p.Gly228Asp) c.218G>A (p.Gly73Asp) c.*249G>A (n.*249G>A) c.841G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87968394del | CA2580088884 | GALC | c.851del (p.Gly284ValfsTer9) c.782del (p.Gly261ValfsTer9) c.773del (p.Gly258ValfsTer9) n.841del c.683del (p.Gly228ValfsTer9) c.218del (p.Gly73ValfsTer9) c.*249del (n.*249del) c.841del | ClinVar |
| 14 | g.87968393C>A | CA390747866 | GALC | c.850G>T (p.Gly284Cys) c.781G>T (p.Gly261Cys) c.772G>T (p.Gly258Cys) n.840G>T n.605G>T c.682G>T (p.Gly228Cys) c.217G>T (p.Gly73Cys) c.*248G>T (n.*248G>T) c.840G>T | |
| 14 | g.87968393C= | CA2153346457 | GALC | c.850G= (p.Gly284=) c.781G= (p.Gly261=) c.772G= (p.Gly258=) n.840G= n.605G= c.682G= (p.Gly228=) c.217G= (p.Gly73=) c.*248G= (n.*248G=) c.840G= | |
| 14 | g.87968393C>G | CA390747868 | GALC | c.850G>C (p.Gly284Arg) c.781G>C (p.Gly261Arg) c.772G>C (p.Gly258Arg) n.840G>C n.605G>C c.682G>C (p.Gly228Arg) c.217G>C (p.Gly73Arg) c.*248G>C (n.*248G>C) c.840G>C | |
| 14 | g.87968393C>T | CA7297231 | GALC | c.850G>A (p.Gly284Ser) c.781G>A (p.Gly261Ser) c.772G>A (p.Gly258Ser) n.840G>A n.605G>A c.682G>A (p.Gly228Ser) c.217G>A (p.Gly73Ser) c.*248G>A (n.*248G>A) c.840G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968394C>A | CA390747870 | GALC | c.849G>T (p.Met283Ile) c.780G>T (p.Met260Ile) c.771G>T (p.Met257Ile) n.839G>T n.604G>T c.681G>T (p.Met227Ile) c.216G>T (p.Met72Ile) c.*247G>T (n.*247G>T) c.839G>T | dbSNP |
| 14 | g.87968394C= | CA2153346458 | GALC | c.849G= (p.Met283=) c.780G= (p.Met260=) c.771G= (p.Met257=) n.839G= n.604G= c.681G= (p.Met227=) c.216G= (p.Met72=) c.*247G= (n.*247G=) c.839G= | |
| 14 | g.87968394C>G | CA390747872 | GALC | c.849G>C (p.Met283Ile) c.780G>C (p.Met260Ile) c.771G>C (p.Met257Ile) n.839G>C n.604G>C c.681G>C (p.Met227Ile) c.216G>C (p.Met72Ile) c.*247G>C (n.*247G>C) c.839G>C | |
| 14 | g.87968394C>T | CA390747871 | GALC | c.849G>A (p.Met283Ile) c.780G>A (p.Met260Ile) c.771G>A (p.Met257Ile) n.839G>A n.604G>A c.681G>A (p.Met227Ile) c.216G>A (p.Met72Ile) c.*247G>A (n.*247G>A) c.839G>A | |
| 14 | g.87968395A= | CA2153346459 | GALC | c.848T= (p.Met283=) c.779T= (p.Met260=) c.770T= (p.Met257=) n.838T= n.603T= c.680T= (p.Met227=) c.215T= (p.Met72=) c.*246T= (n.*246T=) c.838T= | |
| 14 | g.87968395A>C | CA390747873 | GALC | c.848T>G (p.Met283Arg) c.779T>G (p.Met260Arg) c.770T>G (p.Met257Arg) n.838T>G n.603T>G c.680T>G (p.Met227Arg) c.215T>G (p.Met72Arg) c.*246T>G (n.*246T>G) c.838T>G | |
| 14 | g.87968395A>G | CA390747875 | GALC | c.848T>C (p.Met283Thr) c.779T>C (p.Met260Thr) c.770T>C (p.Met257Thr) n.838T>C n.603T>C c.680T>C (p.Met227Thr) c.215T>C (p.Met72Thr) c.*246T>C (n.*246T>C) c.838T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968395A>T | CA390747874 | GALC | c.848T>A (p.Met283Lys) c.779T>A (p.Met260Lys) c.770T>A (p.Met257Lys) n.838T>A n.603T>A c.680T>A (p.Met227Lys) c.215T>A (p.Met72Lys) c.*246T>A (n.*246T>A) c.838T>A | |
| 14 | g.87968396T>A | CA390747877 | GALC | c.847A>T (p.Met283Leu) c.778A>T (p.Met260Leu) c.769A>T (p.Met257Leu) n.837A>T n.602A>T c.679A>T (p.Met227Leu) c.214A>T (p.Met72Leu) c.*245A>T (n.*245A>T) c.837A>T | |
| 14 | g.87968396T>C | CA390747878 | GALC | c.847A>G (p.Met283Val) c.778A>G (p.Met260Val) c.769A>G (p.Met257Val) n.837A>G n.602A>G c.679A>G (p.Met227Val) c.214A>G (p.Met72Val) c.*245A>G (n.*245A>G) c.837A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968396T>G | CA390747879 | GALC | c.847A>C (p.Met283Leu) c.778A>C (p.Met260Leu) c.769A>C (p.Met257Leu) n.837A>C n.602A>C c.679A>C (p.Met227Leu) c.214A>C (p.Met72Leu) c.*245A>C (n.*245A>C) c.837A>C | |
| 14 | g.87968396_87968397insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC | CA487365401 | GALC | c.846_847insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met283GlyfsTer3) c.777_778insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met260GlyfsTer3) c.768_769insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met257GlyfsTer3) n.836_837insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG n.601_602insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG c.678_679insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met227GlyfsTer3) c.213_214insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met72GlyfsTer3) c.*244_*245insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (n.*244_*245insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG) c.836_837insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG | |
| 14 | g.87968397G>A | CA7297232 | GALC | c.846C>T (p.Asp282=) c.777C>T (p.Asp259=) c.768C>T (p.Asp256=) n.836C>T n.601C>T c.678C>T (p.Asp226=) c.213C>T (p.Asp71=) c.*244C>T (n.*244C>T) c.836C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.87968397G>C | CA390747880 | GALC | c.846C>G (p.Asp282Glu) c.777C>G (p.Asp259Glu) c.768C>G (p.Asp256Glu) n.836C>G n.601C>G c.678C>G (p.Asp226Glu) c.213C>G (p.Asp71Glu) c.*244C>G (n.*244C>G) c.836C>G | gnomAD v4 |
| 14 | g.87968397G= | CA2153346460 | GALC | c.846C= (p.Asp282=) c.777C= (p.Asp259=) c.768C= (p.Asp256=) n.836C= n.601C= c.678C= (p.Asp226=) c.213C= (p.Asp71=) c.*244C= (n.*244C=) c.836C= | |
| 14 | g.87968397G>T | CA390747881 | GALC | c.846C>A (p.Asp282Glu) c.777C>A (p.Asp259Glu) c.768C>A (p.Asp256Glu) n.836C>A n.601C>A c.678C>A (p.Asp226Glu) c.213C>A (p.Asp71Glu) c.*244C>A (n.*244C>A) c.836C>A | |
| 14 | g.87968398T>A | CA7297233 | GALC | c.845A>T (p.Asp282Val) c.776A>T (p.Asp259Val) c.767A>T (p.Asp256Val) n.835A>T n.600A>T c.677A>T (p.Asp226Val) c.212A>T (p.Asp71Val) c.*243A>T (n.*243A>T) c.835A>T | dbSNP ExAC gnomAD v2 |
| 14 | g.87968398T>C | CA390747884 | GALC | c.845A>G (p.Asp282Gly) c.776A>G (p.Asp259Gly) c.767A>G (p.Asp256Gly) n.835A>G n.600A>G c.677A>G (p.Asp226Gly) c.212A>G (p.Asp71Gly) c.*243A>G (n.*243A>G) c.835A>G | |
| 14 | g.87968398T>G | CA390747885 | GALC | c.845A>C (p.Asp282Ala) c.776A>C (p.Asp259Ala) c.767A>C (p.Asp256Ala) n.835A>C n.600A>C c.677A>C (p.Asp226Ala) c.212A>C (p.Asp71Ala) c.*243A>C (n.*243A>C) c.835A>C | |
| 14 | g.87968398T= | CA2153346461 | GALC | c.845A= (p.Asp282=) c.776A= (p.Asp259=) c.767A= (p.Asp256=) n.835A= n.600A= c.677A= (p.Asp226=) c.212A= (p.Asp71=) c.*243A= (n.*243A=) c.835A= | |
| 14 | g.87968399C>A | CA390747894 | GALC | c.844G>T (p.Asp282Tyr) c.775G>T (p.Asp259Tyr) c.766G>T (p.Asp256Tyr) n.834G>T n.599G>T c.676G>T (p.Asp226Tyr) c.211G>T (p.Asp71Tyr) c.*242G>T (n.*242G>T) c.834G>T | |
| 14 | g.87968399C>G | CA390747892 | GALC | c.844G>C (p.Asp282His) c.775G>C (p.Asp259His) c.766G>C (p.Asp256His) n.834G>C n.599G>C c.676G>C (p.Asp226His) c.211G>C (p.Asp71His) c.*242G>C (n.*242G>C) c.834G>C | |
| 14 | g.87968399C>T | CA390747891 | GALC | c.844G>A (p.Asp282Asn) c.775G>A (p.Asp259Asn) c.766G>A (p.Asp256Asn) n.834G>A n.599G>A c.676G>A (p.Asp226Asn) c.211G>A (p.Asp71Asn) c.*242G>A (n.*242G>A) c.834G>A | |
| 14 | g.87968400A>C | CA390747895 | GALC | c.843T>G (p.Ser281Arg) c.774T>G (p.Ser258Arg) c.765T>G (p.Ser255Arg) n.833T>G n.598T>G c.675T>G (p.Ser225Arg) c.210T>G (p.Ser70Arg) c.*241T>G (n.*241T>G) c.833T>G | |
| 14 | g.87968400A>G | CA487365415 | GALC | c.843T>C (p.Ser281=) c.774T>C (p.Ser258=) c.765T>C (p.Ser255=) n.833T>C n.598T>C c.675T>C (p.Ser225=) c.210T>C (p.Ser70=) c.*241T>C (n.*241T>C) c.833T>C | gnomAD v4 |
| 14 | g.87968400A>T | CA390747897 | GALC | c.843T>A (p.Ser281Arg) c.774T>A (p.Ser258Arg) c.765T>A (p.Ser255Arg) n.833T>A n.598T>A c.675T>A (p.Ser225Arg) c.210T>A (p.Ser70Arg) c.*241T>A (n.*241T>A) c.833T>A | |
| 14 | g.87968401C>A | CA390747899 | GALC | c.842G>T (p.Ser281Ile) c.773G>T (p.Ser258Ile) c.764G>T (p.Ser255Ile) n.832G>T n.597G>T c.674G>T (p.Ser225Ile) c.209G>T (p.Ser70Ile) c.*240G>T (n.*240G>T) c.832G>T | |
| 14 | g.87968401C>G | CA390747901 | GALC | c.842G>C (p.Ser281Thr) c.773G>C (p.Ser258Thr) c.764G>C (p.Ser255Thr) n.832G>C n.597G>C c.674G>C (p.Ser225Thr) c.209G>C (p.Ser70Thr) c.*240G>C (n.*240G>C) c.832G>C | |
| 14 | g.87968401C>T | CA390747903 | GALC | c.842G>A (p.Ser281Asn) c.773G>A (p.Ser258Asn) c.764G>A (p.Ser255Asn) n.832G>A n.597G>A c.674G>A (p.Ser225Asn) c.209G>A (p.Ser70Asn) c.*240G>A (n.*240G>A) c.832G>A | |
| 14 | g.87968402T>A | CA390747906 | GALC | c.841A>T (p.Ser281Cys) c.772A>T (p.Ser258Cys) c.763A>T (p.Ser255Cys) n.831A>T n.596A>T c.673A>T (p.Ser225Cys) c.208A>T (p.Ser70Cys) c.*239A>T (n.*239A>T) c.831A>T | |
| 14 | g.87968402T>C | CA390747908 | GALC | c.841A>G (p.Ser281Gly) c.772A>G (p.Ser258Gly) c.763A>G (p.Ser255Gly) n.831A>G n.596A>G c.673A>G (p.Ser225Gly) c.208A>G (p.Ser70Gly) c.*239A>G (n.*239A>G) c.831A>G | |
| 14 | g.87968402T>G | CA390747910 | GALC | c.841A>C (p.Ser281Arg) c.772A>C (p.Ser258Arg) c.763A>C (p.Ser255Arg) n.831A>C n.596A>C c.673A>C (p.Ser225Arg) c.208A>C (p.Ser70Arg) c.*239A>C (n.*239A>C) c.831A>C | |
| 14 | g.87968403A>C | CA390747912 | GALC | c.840T>G (p.Asn280Lys) c.771T>G (p.Asn257Lys) c.762T>G (p.Asn254Lys) n.830T>G n.595T>G c.672T>G (p.Asn224Lys) c.207T>G (p.Asn69Lys) c.*238T>G (n.*238T>G) c.830T>G | |
| 14 | g.87968403A>G | CA487365426 | GALC | c.840T>C (p.Asn280=) c.771T>C (p.Asn257=) c.762T>C (p.Asn254=) n.830T>C n.595T>C c.672T>C (p.Asn224=) c.207T>C (p.Asn69=) c.*238T>C (n.*238T>C) c.830T>C | ClinVar gnomAD v4 |