Linked Data
dbSNP Id:
rs1555984773
gnomAD v2:
X-100652902-C-T
gnomAD v3:
X-101397914-C-T
gnomAD v4:
X-101397914-C-T
MyVariant Identifiers:
chrX:g.100652902C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397914C>T , CM000685.2:g.101397914C>T | GRCh38 |
| NC_000023.10:g.100652902C>T , CM000685.1:g.100652902C>T | GRCh37 |
| NC_000023.9:g.100539558C>T | NCBI36 |
| NG_007119.1:g.15050G>A , LRG_672:g.15050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*688G>A (GLA) | ENSP00000501044.2:n.*688G>A | |
| ENST00000710365.1:c.1260G>A (GLA) | ENSP00000518234.1:p.Gly420= | |
| ENST00000218516.4:c.1185G>A (GLA) MANE Select | ENSP00000218516.4:p.Gly395= | |
| ENST00000466414.2:n.1321G>A (GLA) | ||
| ENST00000468823.2:n.2607G>A (GLA) | ||
| ENST00000479445.2:n.1799G>A (GLA) | ||
| ENST00000649178.1:c.1308G>A (GLA) | ENSP00000498186.1:p.Gly436= | |
| ENST00000674127.1:c.1285G>A (GLA) | ENSP00000501044.1:n.1285G>A | |
| ENST00000674142.1:n.1421+68G>A (GLA) | ||
| ENST00000675592.1:c.987G>A (GLA) | ENSP00000502239.1:p.Gly329= | |
| ENST00000675799.1:c.*710G>A (GLA) | ENSP00000502661.1:n.*710G>A | |
| ENST00000675968.1:n.4056G>A (GLA) | ||
| ENST00000676156.1:c.1149G>A (GLA) | ENSP00000501730.1:p.Gly383= | |
| ENST00000676372.1:c.1251G>A (GLA) | ENSP00000502805.1:n.1251G>A | |
| ENST00000218516.3:c.1185G>A (GLA) | ENSP00000218516.3:p.Gly395= | |
| ENST00000409170.3:c.300+2457C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2457C>T | |
| ENST00000409338.5:c.177+6092C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6092C>T | |
| ENST00000466414.1:n.511G>A (GLA) | ||
| ENST00000493905.6:c.*573G>A (GLA) | ENSP00000476935.1:n.*573G>A | |
| NM_000169.2:c.1185G>A , LRG_672t1:c.1185G>A (GLA) | NP_000160.1:p.Gly395= | |
| NM_001199973.1:c.408+2457C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2457C>T | |
| NM_001199974.1:c.285+6092C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6092C>T | |
| XR_938397.1:n.1270G>A (GLA) | ||
| XR_938397.2:n.1291G>A (GLA) | ||
| NM_001199973.2:c.300+2457C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2457C>T | |
| NM_001199974.2:c.177+6092C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6092C>T | |
| NM_000169.3:c.1185G>A (GLA) MANE Select | NP_000160.1:p.Gly395= | |
| NR_164783.1:n.1264G>A (GLA) |