Linked Data
gnomAD v4:
X-101400675-G-T
COSMIC:
COSM754947
MyVariant Identifiers:
chrX:g.100655663G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101400675G>T , CM000685.2:g.101400675G>T | GRCh38 |
| NC_000023.10:g.100655663G>T , CM000685.1:g.100655663G>T | GRCh37 |
| NC_000023.9:g.100542319G>T | NCBI36 |
| NG_007119.1:g.12289C>A , LRG_672:g.12289C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*76C>A (GLA) | ENSP00000501124.2:n.*76C>A | |
| ENST00000674127.2:c.*76C>A (GLA) | ENSP00000501044.2:n.*76C>A | |
| ENST00000710365.1:c.705C>A (GLA) | ENSP00000518234.1:p.Pro235= | |
| ENST00000218516.4:c.630C>A (GLA) MANE Select | ENSP00000218516.4:p.Pro210= | |
| ENST00000466414.2:n.549C>A (GLA) | ||
| ENST00000468823.2:n.1565C>A (GLA) | ||
| ENST00000479445.2:n.1027C>A (GLA) | ||
| ENST00000480513.6:c.547+957C>A (GLA) | ENSP00000497055.1:n.547+957C>A | |
| ENST00000486121.6:c.675C>A (GLA) | ||
| ENST00000649178.1:c.753C>A (GLA) | ENSP00000498186.1:p.Pro251= | |
| ENST00000674127.1:c.673C>A (GLA) | ENSP00000501044.1:n.673C>A | |
| ENST00000674142.1:n.717C>A (GLA) | ||
| ENST00000674634.2:c.630C>A (GLA) | ENSP00000502629.2:p.Pro210= | |
| ENST00000675592.1:c.630C>A (GLA) | ENSP00000502239.1:p.Pro210= | |
| ENST00000675799.1:c.547+957C>A (GLA) | ENSP00000502661.1:n.547+957C>A | |
| ENST00000675968.1:n.1565C>A (GLA) | ||
| ENST00000676156.1:c.594C>A (GLA) | ENSP00000501730.1:p.Pro198= | |
| ENST00000676372.1:c.630C>A (GLA) | ENSP00000502805.1:p.Pro210= | |
| ENST00000218516.3:c.630C>A (GLA) | ENSP00000218516.3:p.Pro210= | |
| ENST00000409170.3:c.300+5218G>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+5218G>T | |
| ENST00000409338.5:c.177+8853G>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+8853G>T | |
| ENST00000468823.1:n.179C>A (GLA) | ||
| ENST00000480513.5:n.477+957C>A (GLA) | ||
| ENST00000486121.5:n.675C>A (GLA) | ||
| ENST00000493905.6:c.630C>A (GLA) | ENSP00000476935.1:p.Pro210= | |
| NM_000169.2:c.630C>A , LRG_672t1:c.630C>A (GLA) | NP_000160.1:p.Pro210= | |
| NM_001199973.1:c.408+5218G>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+5218G>T | |
| NM_001199974.1:c.285+8853G>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+8853G>T | |
| XR_938397.1:n.658C>A (GLA) | ||
| XR_938397.2:n.679C>A (GLA) | ||
| NM_001199973.2:c.300+5218G>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+5218G>T | |
| NM_001199974.2:c.177+8853G>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+8853G>T | |
| NM_000169.3:c.630C>A (GLA) MANE Select | NP_000160.1:p.Pro210= | |
| NR_164783.1:n.652C>A (GLA) |