Linked Data
dbSNP Id:
rs2032624
gnomAD v3:
Y-12914512-C-A
gnomAD v4:
Y-12914512-C-A
MyVariant Identifiers:
chrY:g.12914512C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12914512C>A , CM000686.2:g.12914512C>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336079.8:c.674-52C>A MANE Select | ENSP00000336725.3:n.674-52C>A | |
| ENST00000336079.7:c.674-52C>A | ENSP00000336725.3:n.674-52C>A | |
| ENST00000360160.8:c.674-52C>A | ENSP00000353284.4:n.674-52C>A | |
| ENST00000440554.1:c.665-52C>A | ENSP00000400377.1:n.665-52C>A | |
| ENST00000463199.1:n.192-52C>A | ||
| ENST00000472510.5:n.237-52C>A | ||
| NM_001122665.2:c.674-52C>A | NP_001116137.1:n.674-52C>A | |
| NM_001302552.1:c.665-52C>A | NP_001289481.1:n.665-52C>A | |
| NM_004660.4:c.674-52C>A | NP_004651.2:n.674-52C>A | |
| XM_006724878.1:c.674-52C>A | XP_006724941.1:n.674-52C>A | |
| XM_011531471.1:c.674-52C>A | XP_011529773.1:n.674-52C>A | |
| NM_001122665.3:c.674-52C>A | NP_001116137.1:n.674-52C>A | |
| NM_001302552.2:c.665-52C>A | NP_001289481.1:n.665-52C>A | |
| NM_001324195.1:c.674-52C>A | NP_001311124.1:n.674-52C>A | |
| NR_136716.1:n.825-52C>A | ||
| NR_136717.1:n.905-52C>A | ||
| NR_136718.1:n.905-52C>A | ||
| NR_136719.1:n.695-52C>A | ||
| NR_136720.1:n.825-52C>A | ||
| NR_136721.1:n.753-52C>A | ||
| NR_136722.1:n.820-52C>A | ||
| NR_136723.1:n.820-52C>A | ||
| NR_136724.1:n.740-52C>A | ||
| XR_001756014.2:n.778-52C>A | ||
| NM_004660.5:c.674-52C>A MANE Select | NP_004651.2:n.674-52C>A | |
| NM_001302552.3:c.665-52C>A | NP_001289481.1:n.665-52C>A | |
| NM_001324195.2:c.674-52C>A | NP_001311124.1:n.674-52C>A | |
| NR_136716.2:n.743-52C>A | ||
| NR_136717.2:n.823-52C>A | ||
| NR_136718.2:n.823-52C>A | ||
| NR_136719.2:n.613-52C>A | ||
| NR_136720.2:n.743-52C>A | ||
| NR_136721.2:n.743-52C>A |