Linked Data
dbSNP Id:
rs782298737
ExAC:
X:100653482 G / C
gnomAD v2:
X-100653482-G-C
gnomAD v4:
X-101398494-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398494G>C , CM000685.2:g.101398494G>C | GRCh38 |
| NC_000023.10:g.100653482G>C , CM000685.1:g.100653482G>C | GRCh37 |
| NC_000023.9:g.100540138G>C | NCBI36 |
| NG_007119.1:g.14470C>G , LRG_672:g.14470C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*321C>G (GLA) | ENSP00000501124.2:n.*321C>G | |
| ENST00000674127.2:c.*378C>G (GLA) | ENSP00000501044.2:n.*378C>G | |
| ENST00000710365.1:c.950C>G (GLA) | ENSP00000518234.1:p.Ala317Gly | |
| ENST00000218516.4:c.875C>G (GLA) MANE Select | ENSP00000218516.4:p.Ala292Gly | |
| ENST00000466414.2:n.1011C>G (GLA) | ||
| ENST00000468823.2:n.2027C>G (GLA) | ||
| ENST00000479445.2:n.1489C>G (GLA) | ||
| ENST00000480513.6:c.*183C>G (GLA) | ENSP00000497055.1:n.*183C>G | |
| ENST00000486121.6:c.920C>G (GLA) | ||
| ENST00000649178.1:c.998C>G (GLA) | ENSP00000498186.1:p.Ala333Gly | |
| ENST00000674127.1:c.975C>G (GLA) | ENSP00000501044.1:n.975C>G | |
| ENST00000674142.1:n.1179C>G (GLA) | ||
| ENST00000674634.2:c.875C>G (GLA) | ENSP00000502629.2:p.Ala292Gly | |
| ENST00000675592.1:c.801+291C>G (GLA) | ENSP00000502239.1:n.801+291C>G | |
| ENST00000675799.1:c.*400C>G (GLA) | ENSP00000502661.1:n.*400C>G | |
| ENST00000675968.1:n.3746C>G (GLA) | ||
| ENST00000676156.1:c.839C>G (GLA) | ENSP00000501730.1:p.Ala280Gly | |
| ENST00000676372.1:c.941C>G (GLA) | ENSP00000502805.1:n.941C>G | |
| ENST00000218516.3:c.875C>G (GLA) | ENSP00000218516.3:p.Ala292Gly | |
| ENST00000409170.3:c.300+3037G>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3037G>C | |
| ENST00000409338.5:c.177+6672G>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6672G>C | |
| ENST00000466414.1:n.201C>G (GLA) | ||
| ENST00000493905.6:c.*263C>G (GLA) | ENSP00000476935.1:n.*263C>G | |
| NM_000169.2:c.875C>G , LRG_672t1:c.875C>G (GLA) | NP_000160.1:p.Ala292Gly | |
| NM_001199973.1:c.408+3037G>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3037G>C | |
| NM_001199974.1:c.285+6672G>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6672G>C | |
| XR_938397.1:n.960C>G (GLA) | ||
| XR_938397.2:n.981C>G (GLA) | ||
| NM_001199973.2:c.300+3037G>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3037G>C | |
| NM_001199974.2:c.177+6672G>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6672G>C | |
| NM_000169.3:c.875C>G (GLA) MANE Select | NP_000160.1:p.Ala292Gly | |
| NR_164783.1:n.954C>G (GLA) |