Linked Data
dbSNP Id:
rs1557045354
gnomAD v2:
X-152959522-G-A
gnomAD v4:
X-153694067-G-A
MyVariant Identifiers:
chrX:g.152959522G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694067G>A , CM000685.2:g.153694067G>A | GRCh38 |
| NC_000023.10:g.152959522G>A , CM000685.1:g.152959522G>A | GRCh37 |
| NC_000023.9:g.152612716G>A | NCBI36 |
| NG_012016.1:g.10771G>A | |
| NG_012016.2:g.10771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1254+50G>A MANE Select | ENSP00000253122.5:n.1254+50G>A | |
| ENST00000253122.9:c.1254+50G>A | ENSP00000253122.5:n.1254+50G>A | |
| ENST00000413787.1:c.258-137G>A | ENSP00000400463.1:n.258-137G>A | |
| ENST00000430077.6:c.909+50G>A | ENSP00000403041.2:n.909+50G>A | |
| ENST00000442457.1:c.308+50G>A | ||
| ENST00000457723.1:c.238+50G>A | ENSP00000394742.1:n.238+50G>A | |
| ENST00000485324.1:n.1337G>A | ||
| NM_001142805.1:c.1224+50G>A | NP_001136277.1:n.1224+50G>A | |
| NM_001142806.1:c.909+50G>A | NP_001136278.1:n.909+50G>A | |
| NM_005629.3:c.1254+50G>A | NP_005620.1:n.1254+50G>A | |
| NM_005629.4:c.1254+50G>A MANE Select | NP_005620.1:n.1254+50G>A | |
| NM_001142805.2:c.1224+50G>A | NP_001136277.1:n.1224+50G>A |