Linked Data
ClinVar Variation Id:
42451
dbSNP Id:
rs144994244
ExAC:
X:100652985 C / T
gnomAD v2:
X-100652985-C-T
gnomAD v3:
X-101397997-C-T
gnomAD v4:
X-101397997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397997C>T , CM000685.2:g.101397997C>T | GRCh38 |
| NC_000023.10:g.100652985C>T , CM000685.1:g.100652985C>T | GRCh37 |
| NC_000023.9:g.100539641C>T | NCBI36 |
| NG_007119.1:g.14967G>A , LRG_672:g.14967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*548G>A (GLA) | ENSP00000501124.2:n.*548G>A | |
| ENST00000674127.2:c.*605G>A (GLA) | ENSP00000501044.2:n.*605G>A | |
| ENST00000710365.1:c.1177G>A (GLA) | ENSP00000518234.1:p.Ala393Thr | |
| ENST00000218516.4:c.1102G>A (GLA) MANE Select | ENSP00000218516.4:p.Ala368Thr | |
| ENST00000466414.2:n.1238G>A (GLA) | ||
| ENST00000468823.2:n.2524G>A (GLA) | ||
| ENST00000479445.2:n.1716G>A (GLA) | ||
| ENST00000480513.6:c.*410G>A (GLA) | ENSP00000497055.1:n.*410G>A | |
| ENST00000486121.6:c.1147G>A (GLA) | ||
| ENST00000649178.1:c.1225G>A (GLA) | ENSP00000498186.1:p.Ala409Thr | |
| ENST00000674127.1:c.1202G>A (GLA) | ENSP00000501044.1:n.1202G>A | |
| ENST00000674142.1:n.1406G>A (GLA) | ||
| ENST00000675592.1:c.904G>A (GLA) | ENSP00000502239.1:p.Ala302Thr | |
| ENST00000675799.1:c.*627G>A (GLA) | ENSP00000502661.1:n.*627G>A | |
| ENST00000675968.1:n.3973G>A (GLA) | ||
| ENST00000676156.1:c.1066G>A (GLA) | ENSP00000501730.1:p.Ala356Thr | |
| ENST00000676372.1:c.1168G>A (GLA) | ENSP00000502805.1:n.1168G>A | |
| ENST00000218516.3:c.1102G>A (GLA) | ENSP00000218516.3:p.Ala368Thr | |
| ENST00000409170.3:c.300+2540C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2540C>T | |
| ENST00000409338.5:c.177+6175C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6175C>T | |
| ENST00000466414.1:n.428G>A (GLA) | ||
| ENST00000493905.6:c.*490G>A (GLA) | ENSP00000476935.1:n.*490G>A | |
| NM_000169.2:c.1102G>A , LRG_672t1:c.1102G>A (GLA) | NP_000160.1:p.Ala368Thr | |
| NM_001199973.1:c.408+2540C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2540C>T | |
| NM_001199974.1:c.285+6175C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6175C>T | |
| XR_938397.1:n.1187G>A (GLA) | ||
| XR_938397.2:n.1208G>A (GLA) | ||
| NM_001199973.2:c.300+2540C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2540C>T | |
| NM_001199974.2:c.177+6175C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6175C>T | |
| NM_000169.3:c.1102G>A (GLA) MANE Select | NP_000160.1:p.Ala368Thr | |
| NR_164783.1:n.1181G>A (GLA) |