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.
Linked Data
ClinVar Variation Id:
10774
ClinVar RCV Id:
RCV000011521
dbSNP Id:
rs28935495
PubMed:
PMID:15162124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398554T>C , CM000685.2:g.101398554T>C | GRCh38 |
| NC_000023.10:g.100653542T>C , CM000685.1:g.100653542T>C | GRCh37 |
| NC_000023.9:g.100540198T>C | NCBI36 |
| NG_007119.1:g.14410A>G , LRG_672:g.14410A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*261A>G (GLA) | ENSP00000501124.2:n.*261A>G | |
| ENST00000674127.2:c.*318A>G (GLA) | ENSP00000501044.2:n.*318A>G | |
| ENST00000710365.1:c.890A>G (GLA) | ENSP00000518234.1:p.Asn297Ser | |
| ENST00000218516.4:c.815A>G (GLA) MANE Select | ENSP00000218516.4:p.Asn272Ser | |
| ENST00000466414.2:n.951A>G (GLA) | ||
| ENST00000468823.2:n.1967A>G (GLA) | ||
| ENST00000479445.2:n.1429A>G (GLA) | ||
| ENST00000480513.6:c.*123A>G (GLA) | ENSP00000497055.1:n.*123A>G | |
| ENST00000486121.6:c.860A>G (GLA) | ||
| ENST00000649178.1:c.938A>G (GLA) | ENSP00000498186.1:p.Asn313Ser | |
| ENST00000674127.1:c.915A>G (GLA) | ENSP00000501044.1:n.915A>G | |
| ENST00000674142.1:n.1119A>G (GLA) | ||
| ENST00000674634.2:c.815A>G (GLA) | ENSP00000502629.2:p.Asn272Ser | |
| ENST00000675592.1:c.801+231A>G (GLA) | ENSP00000502239.1:n.801+231A>G | |
| ENST00000675799.1:c.*340A>G (GLA) | ENSP00000502661.1:n.*340A>G | |
| ENST00000675968.1:n.3686A>G (GLA) | ||
| ENST00000676156.1:c.779A>G (GLA) | ENSP00000501730.1:p.Asn260Ser | |
| ENST00000676372.1:c.881A>G (GLA) | ENSP00000502805.1:n.881A>G | |
| ENST00000218516.3:c.815A>G (GLA) | ENSP00000218516.3:p.Asn272Ser | |
| ENST00000409170.3:c.300+3097T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3097T>C | |
| ENST00000409338.5:c.177+6732T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6732T>C | |
| ENST00000466414.1:n.141A>G (GLA) | ||
| ENST00000468823.1:n.581A>G (GLA) | ||
| ENST00000493905.6:c.*203A>G (GLA) | ENSP00000476935.1:n.*203A>G | |
| NM_000169.2:c.815A>G , LRG_672t1:c.815A>G (GLA) | NP_000160.1:p.Asn272Ser | |
| NM_001199973.1:c.408+3097T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3097T>C | |
| NM_001199974.1:c.285+6732T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6732T>C | |
| XR_938397.1:n.900A>G (GLA) | ||
| XR_938397.2:n.921A>G (GLA) | ||
| NM_001199973.2:c.300+3097T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3097T>C | |
| NM_001199974.2:c.177+6732T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6732T>C | |
| NM_000169.3:c.815A>G (GLA) MANE Select | NP_000160.1:p.Asn272Ser | |
| NR_164783.1:n.894A>G (GLA) |