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.87965536_87965601del | CA2697554056 | GALC | c.940_1005del (p.Tyr314_Tyr335del) c.871_936del (p.Tyr291_Tyr312del) c.862_927del (p.Tyr288_Tyr309del) n.930_995del c.772_837del (p.Tyr258_Tyr279del) c.307_372del (p.Tyr103_Tyr124del) c.*338_*403del (n.*338_*403del) n.26_91del c.930_995del | ClinVar |
| 14 | g.87965592G>A | CA16041701 | GALC | c.946C>T (p.Gln316Ter) c.877C>T (p.Gln293Ter) c.868C>T (p.Gln290Ter) n.936C>T c.778C>T (p.Gln260Ter) c.313C>T (p.Gln105Ter) c.*344C>T (n.*344C>T) n.32C>T c.936C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87965592G>C | CA390747585 | GALC | c.946C>G (p.Gln316Glu) c.877C>G (p.Gln293Glu) c.868C>G (p.Gln290Glu) n.936C>G c.778C>G (p.Gln260Glu) c.313C>G (p.Gln105Glu) c.*344C>G (n.*344C>G) n.32C>G c.936C>G | |
| 14 | g.87965592G= | CA2153345228 | GALC | c.946C= (p.Gln316=) c.877C= (p.Gln293=) c.868C= (p.Gln290=) n.936C= c.778C= (p.Gln260=) c.313C= (p.Gln105=) c.*344C= (n.*344C=) n.32C= c.936C= | |
| 14 | g.87965592G>T | CA7297192 | GALC | c.946C>A (p.Gln316Lys) c.877C>A (p.Gln293Lys) c.868C>A (p.Gln290Lys) n.936C>A c.778C>A (p.Gln260Lys) c.313C>A (p.Gln105Lys) c.*344C>A (n.*344C>A) n.32C>A c.936C>A | dbSNP ExAC |
| 14 | g.87965593T>A | CA390747586 | GALC | c.945A>T (p.Glu315Asp) c.876A>T (p.Glu292Asp) c.867A>T (p.Glu289Asp) n.935A>T c.777A>T (p.Glu259Asp) c.312A>T (p.Glu104Asp) c.*343A>T (n.*343A>T) n.31A>T c.935A>T | |
| 14 | g.87965593T>C | CA487364935 | GALC | c.945A>G (p.Glu315=) c.876A>G (p.Glu292=) c.867A>G (p.Glu289=) n.935A>G c.777A>G (p.Glu259=) c.312A>G (p.Glu104=) c.*343A>G (n.*343A>G) n.31A>G c.935A>G | ClinVar dbSNP |
| 14 | g.87965593T>G | CA390747587 | GALC | c.945A>C (p.Glu315Asp) c.876A>C (p.Glu292Asp) c.867A>C (p.Glu289Asp) n.935A>C c.777A>C (p.Glu259Asp) c.312A>C (p.Glu104Asp) c.*343A>C (n.*343A>C) n.31A>C c.935A>C | |
| 14 | g.87965594T>A | CA390747588 | GALC | c.944A>T (p.Glu315Val) c.875A>T (p.Glu292Val) c.866A>T (p.Glu289Val) n.934A>T c.776A>T (p.Glu259Val) c.311A>T (p.Glu104Val) c.*342A>T (n.*342A>T) n.30A>T c.934A>T | |
| 14 | g.87965594T>C | CA390747589 | GALC | c.944A>G (p.Glu315Gly) c.875A>G (p.Glu292Gly) c.866A>G (p.Glu289Gly) n.934A>G c.776A>G (p.Glu259Gly) c.311A>G (p.Glu104Gly) c.*342A>G (n.*342A>G) n.30A>G c.934A>G | |
| 14 | g.87965594T>G | CA390747590 | GALC | c.944A>C (p.Glu315Ala) c.875A>C (p.Glu292Ala) c.866A>C (p.Glu289Ala) n.934A>C c.776A>C (p.Glu259Ala) c.311A>C (p.Glu104Ala) c.*342A>C (n.*342A>C) n.30A>C c.934A>C | |
| 14 | g.87965594_87965595delinsTC | CA2153345229 | GALC | c.943_944delinsGA (p.Glu315=) c.874_875delinsGA (p.Glu292=) c.865_866delinsGA (p.Glu289=) n.933_934delinsGA c.775_776delinsGA (p.Glu259=) c.310_311delinsGA (p.Glu104=) c.*341_*342delinsGA (n.*341_*342delinsGA) n.29_30delinsGA c.933_934delinsGA | |
| 14 | g.87965595del | CA1139663598 | GALC | c.943del (p.Glu315AsnfsTer10) c.874del (p.Glu292AsnfsTer10) c.865del (p.Glu289AsnfsTer10) n.933del c.775del (p.Glu259AsnfsTer10) c.310del (p.Glu104AsnfsTer10) c.*341del (n.*341del) n.29del c.933del | ClinVar dbSNP |
| 14 | g.87965595C>A | CA390747591 | GALC | c.943G>T (p.Glu315Ter) c.874G>T (p.Glu292Ter) c.865G>T (p.Glu289Ter) n.933G>T c.775G>T (p.Glu259Ter) c.310G>T (p.Glu104Ter) c.*341G>T (n.*341G>T) n.29G>T c.933G>T | |
| 14 | g.87965595C= | CA2153345230 | GALC | c.943G= (p.Glu315=) c.874G= (p.Glu292=) c.865G= (p.Glu289=) n.933G= c.775G= (p.Glu259=) c.310G= (p.Glu104=) c.*341G= (n.*341G=) n.29G= c.933G= | |
| 14 | g.87965595C>G | CA390747592 | GALC | c.943G>C (p.Glu315Gln) c.874G>C (p.Glu292Gln) c.865G>C (p.Glu289Gln) n.933G>C c.775G>C (p.Glu259Gln) c.310G>C (p.Glu104Gln) c.*341G>C (n.*341G>C) n.29G>C c.933G>C | |
| 14 | g.87965595C>T | CA390747593 | GALC | c.943G>A (p.Glu315Lys) c.874G>A (p.Glu292Lys) c.865G>A (p.Glu289Lys) n.933G>A c.775G>A (p.Glu259Lys) c.310G>A (p.Glu104Lys) c.*341G>A (n.*341G>A) n.29G>A c.933G>A | dbSNP |
| 14 | g.87965596A>C | CA390747594 | GALC | c.942T>G (p.Tyr314Ter) c.873T>G (p.Tyr291Ter) c.864T>G (p.Tyr288Ter) n.932T>G c.774T>G (p.Tyr258Ter) c.309T>G (p.Tyr103Ter) c.*340T>G (n.*340T>G) n.28T>G c.932T>G | |
| 14 | g.87965596A>G | CA487364936 | GALC | c.942T>C (p.Tyr314=) c.873T>C (p.Tyr291=) c.864T>C (p.Tyr288=) n.932T>C c.774T>C (p.Tyr258=) c.309T>C (p.Tyr103=) c.*340T>C (n.*340T>C) n.28T>C c.932T>C | ClinVar dbSNP |
| 14 | g.87965596A>T | CA390747595 | GALC | c.942T>A (p.Tyr314Ter) c.873T>A (p.Tyr291Ter) c.864T>A (p.Tyr288Ter) n.932T>A c.774T>A (p.Tyr258Ter) c.309T>A (p.Tyr103Ter) c.*340T>A (n.*340T>A) n.28T>A c.932T>A | |
| 14 | g.87965597T>A | CA390747596 | GALC | c.941A>T (p.Tyr314Phe) c.872A>T (p.Tyr291Phe) c.863A>T (p.Tyr288Phe) n.931A>T c.773A>T (p.Tyr258Phe) c.308A>T (p.Tyr103Phe) c.*339A>T (n.*339A>T) n.27A>T c.931A>T | |
| 14 | g.87965597T>C | CA390747597 | GALC | c.941A>G (p.Tyr314Cys) c.872A>G (p.Tyr291Cys) c.863A>G (p.Tyr288Cys) n.931A>G c.773A>G (p.Tyr258Cys) c.308A>G (p.Tyr103Cys) c.*339A>G (n.*339A>G) n.27A>G c.931A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87965597T>G | CA390747598 | GALC | c.941A>C (p.Tyr314Ser) c.872A>C (p.Tyr291Ser) c.863A>C (p.Tyr288Ser) n.931A>C c.773A>C (p.Tyr258Ser) c.308A>C (p.Tyr103Ser) c.*339A>C (n.*339A>C) n.27A>C c.931A>C | gnomAD v4 |
| 14 | g.87965597T= | CA2153345231 | GALC | c.941A= (p.Tyr314=) c.872A= (p.Tyr291=) c.863A= (p.Tyr288=) n.931A= c.773A= (p.Tyr258=) c.308A= (p.Tyr103=) c.*339A= (n.*339A=) n.27A= c.931A= | |
| 14 | g.87965599_87965601del | CA2695219633 | GALC | c.939_941del (p.Tyr314del) c.870_872del (p.Tyr291del) c.861_863del (p.Tyr288del) n.929_931del c.771_773del (p.Tyr258del) c.306_308del (p.Tyr103del) c.*337_*339del (n.*337_*339del) n.25_27del c.929_931del | |
| 14 | g.87965598A>C | CA390747601 | GALC | c.940T>G (p.Tyr314Asp) c.871T>G (p.Tyr291Asp) c.862T>G (p.Tyr288Asp) n.930T>G c.772T>G (p.Tyr258Asp) c.307T>G (p.Tyr103Asp) c.*338T>G (n.*338T>G) n.26T>G c.930T>G | |
| 14 | g.87965598A>G | CA390747600 | GALC | c.940T>C (p.Tyr314His) c.871T>C (p.Tyr291His) c.862T>C (p.Tyr288His) n.930T>C c.772T>C (p.Tyr258His) c.307T>C (p.Tyr103His) c.*338T>C (n.*338T>C) n.26T>C c.930T>C | ClinVar dbSNP |
| 14 | g.87965598A>T | CA390747599 | GALC | c.940T>A (p.Tyr314Asn) c.871T>A (p.Tyr291Asn) c.862T>A (p.Tyr288Asn) n.930T>A c.772T>A (p.Tyr258Asn) c.307T>A (p.Tyr103Asn) c.*338T>A (n.*338T>A) n.26T>A c.930T>A | |
| 14 | g.87965599G>A | CA264702243 | GALC | c.939C>T (p.Tyr313=) c.870C>T (p.Tyr290=) c.861C>T (p.Tyr287=) n.929C>T c.771C>T (p.Tyr257=) c.306C>T (p.Tyr102=) c.*337C>T (n.*337C>T) n.25C>T c.929C>T | dbSNP gnomAD v4 |
| 14 | g.87965599G>C | CA390747602 | GALC | c.939C>G (p.Tyr313Ter) c.870C>G (p.Tyr290Ter) c.861C>G (p.Tyr287Ter) n.929C>G c.771C>G (p.Tyr257Ter) c.306C>G (p.Tyr102Ter) c.*337C>G (n.*337C>G) n.25C>G c.929C>G | |
| 14 | g.87965599G= | CA2153345232 | GALC | c.939C= (p.Tyr313=) c.870C= (p.Tyr290=) c.861C= (p.Tyr287=) n.929C= c.771C= (p.Tyr257=) c.306C= (p.Tyr102=) c.*337C= (n.*337C=) n.25C= c.929C= | |
| 14 | g.87965599G>T | CA390747603 | GALC | c.939C>A (p.Tyr313Ter) c.870C>A (p.Tyr290Ter) c.861C>A (p.Tyr287Ter) n.929C>A c.771C>A (p.Tyr257Ter) c.306C>A (p.Tyr102Ter) c.*337C>A (n.*337C>A) n.25C>A c.929C>A | gnomAD v4 |
| 14 | g.87965600T>A | CA390747604 | GALC | c.938A>T (p.Tyr313Phe) c.869A>T (p.Tyr290Phe) c.860A>T (p.Tyr287Phe) n.928A>T c.770A>T (p.Tyr257Phe) c.305A>T (p.Tyr102Phe) c.*336A>T (n.*336A>T) n.24A>T c.928A>T | |
| 14 | g.87965600T>C | CA390747605 | GALC | c.938A>G (p.Tyr313Cys) c.869A>G (p.Tyr290Cys) c.860A>G (p.Tyr287Cys) n.928A>G c.770A>G (p.Tyr257Cys) c.305A>G (p.Tyr102Cys) c.*336A>G (n.*336A>G) n.24A>G c.928A>G | ClinVar |
| 14 | g.87965600T>G | CA390747606 | GALC | c.938A>C (p.Tyr313Ser) c.869A>C (p.Tyr290Ser) c.860A>C (p.Tyr287Ser) n.928A>C c.770A>C (p.Tyr257Ser) c.305A>C (p.Tyr102Ser) c.*336A>C (n.*336A>C) n.24A>C c.928A>C | |
| 14 | g.87965601A= | CA2153345233 | GALC | c.937T= (p.Tyr313=) c.868T= (p.Tyr290=) c.859T= (p.Tyr287=) n.927T= c.769T= (p.Tyr257=) c.304T= (p.Tyr102=) c.*335T= (n.*335T=) n.23T= c.927T= | |
| 14 | g.87965601A>C | CA390747607 | GALC | c.937T>G (p.Tyr313Asp) c.868T>G (p.Tyr290Asp) c.859T>G (p.Tyr287Asp) n.927T>G c.769T>G (p.Tyr257Asp) c.304T>G (p.Tyr102Asp) c.*335T>G (n.*335T>G) n.23T>G c.927T>G | |
| 14 | g.87965601A>G | CA390747608 | GALC | c.937T>C (p.Tyr313His) c.868T>C (p.Tyr290His) c.859T>C (p.Tyr287His) n.927T>C c.769T>C (p.Tyr257His) c.304T>C (p.Tyr102His) c.*335T>C (n.*335T>C) n.23T>C c.927T>C | dbSNP gnomAD v4 |
| 14 | g.87965601A>T | CA390747609 | GALC | c.937T>A (p.Tyr313Asn) c.868T>A (p.Tyr290Asn) c.859T>A (p.Tyr287Asn) n.927T>A c.769T>A (p.Tyr257Asn) c.304T>A (p.Tyr102Asn) c.*335T>A (n.*335T>A) n.23T>A c.927T>A | |
| 14 | g.87965602A= | CA2153345234 | GALC | c.936T= (p.Ser312=) c.867T= (p.Ser289=) c.858T= (p.Ser286=) n.926T= c.768T= (p.Ser256=) c.303T= (p.Ser101=) c.*334T= (n.*334T=) n.22T= c.926T= | |
| 14 | g.87965602A>C | CA7297194 | GALC | c.936T>G (p.Ser312Arg) c.867T>G (p.Ser289Arg) c.858T>G (p.Ser286Arg) n.926T>G c.768T>G (p.Ser256Arg) c.303T>G (p.Ser101Arg) c.*334T>G (n.*334T>G) n.22T>G c.926T>G | dbSNP ExAC |
| 14 | g.87965602A>G | CA487364937 | GALC | c.936T>C (p.Ser312=) c.867T>C (p.Ser289=) c.858T>C (p.Ser286=) n.926T>C c.768T>C (p.Ser256=) c.303T>C (p.Ser101=) c.*334T>C (n.*334T>C) n.22T>C c.926T>C | |
| 14 | g.87965602A>T | CA7297193 | GALC | c.936T>A (p.Ser312Arg) c.867T>A (p.Ser289Arg) c.858T>A (p.Ser286Arg) n.926T>A c.768T>A (p.Ser256Arg) c.303T>A (p.Ser101Arg) c.*334T>A (n.*334T>A) n.22T>A c.926T>A | dbSNP ExAC gnomAD v2 |
| 14 | g.87965603C>A | CA390747610 | GALC | c.935G>T (p.Ser312Ile) c.866G>T (p.Ser289Ile) c.857G>T (p.Ser286Ile) n.925G>T c.767G>T (p.Ser256Ile) c.302G>T (p.Ser101Ile) c.*333G>T (n.*333G>T) n.21G>T c.925G>T | |
| 14 | g.87965603C= | CA2153345235 | GALC | c.935G= (p.Ser312=) c.866G= (p.Ser289=) c.857G= (p.Ser286=) n.925G= c.767G= (p.Ser256=) c.302G= (p.Ser101=) c.*333G= (n.*333G=) n.21G= c.925G= | |
| 14 | g.87965603C>G | CA390747611 | GALC | c.935G>C (p.Ser312Thr) c.866G>C (p.Ser289Thr) c.857G>C (p.Ser286Thr) n.925G>C c.767G>C (p.Ser256Thr) c.302G>C (p.Ser101Thr) c.*333G>C (n.*333G>C) n.21G>C c.925G>C | |
| 14 | g.87965603C>T | CA7297195 | GALC | c.935G>A (p.Ser312Asn) c.866G>A (p.Ser289Asn) c.857G>A (p.Ser286Asn) n.925G>A c.767G>A (p.Ser256Asn) c.302G>A (p.Ser101Asn) c.*333G>A (n.*333G>A) n.21G>A c.925G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87965604T>A | CA390747614 | GALC | c.934A>T (p.Ser312Cys) c.865A>T (p.Ser289Cys) c.856A>T (p.Ser286Cys) n.924A>T c.766A>T (p.Ser256Cys) c.301A>T (p.Ser101Cys) c.*332A>T (n.*332A>T) n.20A>T c.924A>T | |
| 14 | g.87965604T>C | CA390747613 | GALC | c.934A>G (p.Ser312Gly) c.865A>G (p.Ser289Gly) c.856A>G (p.Ser286Gly) n.924A>G c.766A>G (p.Ser256Gly) c.301A>G (p.Ser101Gly) c.*332A>G (n.*332A>G) n.20A>G c.924A>G | gnomAD v4 |
| 14 | g.87965604T>G | CA390747612 | GALC | c.934A>C (p.Ser312Arg) c.865A>C (p.Ser289Arg) c.856A>C (p.Ser286Arg) n.924A>C c.766A>C (p.Ser256Arg) c.301A>C (p.Ser101Arg) c.*332A>C (n.*332A>C) n.20A>C c.924A>C |