Linked Data
dbSNP Id:
rs1557159085
gnomAD v2:
X-153453434-G-A
gnomAD v4:
X-154187945-G-A
MyVariant Identifiers:
chrX:g.153453434G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187945G>A , CM000685.2:g.154187945G>A | GRCh38 |
| NC_000023.10:g.153453434G>A , CM000685.1:g.153453434G>A | GRCh37 |
| NG_011606.1:g.10350G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595290.6:c.288G>A MANE Select | ENSP00000472316.1:p.Ala96= | |
| ENST00000595290.5:c.288G>A | ENSP00000472316.1:p.Ala96= | |
| ENST00000595330.1:n.298G>A | ||
| NM_000513.2:c.288G>A MANE Select | NP_000504.1:p.Ala96= |