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:
1157680
ClinVar RCV Id:
RCV001500820
dbSNP Id:
rs2147470421
COSMIC:
COSM4844640
MyVariant Identifiers:
chrX:g.100652821C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397833C>T , CM000685.2:g.101397833C>T | GRCh38 |
| NC_000023.10:g.100652821C>T , CM000685.1:g.100652821C>T | GRCh37 |
| NC_000023.9:g.100539477C>T | NCBI36 |
| NG_007119.1:g.15131G>A , LRG_672:g.15131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*769G>A (GLA) | ENSP00000501044.2:n.*769G>A | |
| ENST00000710365.1:c.1341G>A (GLA) | ENSP00000518234.1:p.Gln447= | |
| ENST00000218516.4:c.1266G>A (GLA) MANE Select | ENSP00000218516.4:p.Gln422= | |
| ENST00000466414.2:n.1402G>A (GLA) | ||
| ENST00000468823.2:n.2688G>A (GLA) | ||
| ENST00000479445.2:n.1880G>A (GLA) | ||
| ENST00000649178.1:c.1389G>A (GLA) | ENSP00000498186.1:p.Gln463= | |
| ENST00000674127.1:c.1366G>A (GLA) | ENSP00000501044.1:n.1366G>A | |
| ENST00000674142.1:n.1421+149G>A (GLA) | ||
| ENST00000675592.1:c.1068G>A (GLA) | ENSP00000502239.1:p.Gln356= | |
| ENST00000675968.1:n.4137G>A (GLA) | ||
| ENST00000676156.1:c.1230G>A (GLA) | ENSP00000501730.1:p.Gln410= | |
| ENST00000676372.1:c.1332G>A (GLA) | ENSP00000502805.1:n.1332G>A | |
| ENST00000218516.3:c.1266G>A (GLA) | ENSP00000218516.3:p.Gln422= | |
| ENST00000409170.3:c.300+2376C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2376C>T | |
| ENST00000409338.5:c.177+6011C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6011C>T | |
| ENST00000466414.1:n.592G>A (GLA) | ||
| ENST00000493905.6:c.*654G>A (GLA) | ENSP00000476935.1:n.*654G>A | |
| NM_000169.2:c.1266G>A , LRG_672t1:c.1266G>A (GLA) | NP_000160.1:p.Gln422= | |
| NM_001199973.1:c.408+2376C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2376C>T | |
| NM_001199974.1:c.285+6011C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6011C>T | |
| XR_938397.1:n.1351G>A (GLA) | ||
| XR_938397.2:n.1372G>A (GLA) | ||
| NM_001199973.2:c.300+2376C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2376C>T | |
| NM_001199974.2:c.177+6011C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6011C>T | |
| NM_000169.3:c.1266G>A (GLA) MANE Select | NP_000160.1:p.Gln422= | |
| NR_164783.1:n.1345G>A (GLA) |