Linked Data
ClinVar Variation Id:
1663488
ClinVar RCV Id:
RCV002188528
dbSNP Id:
rs782166410
gnomAD v2:
X-53264385-G-T
gnomAD v4:
X-53235203-G-T
MyVariant Identifiers:
chrX:g.53264385G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235203G>T , CM000685.2:g.53235203G>T | GRCh38 |
| NC_000023.10:g.53264385G>T , CM000685.1:g.53264385G>T | GRCh37 |
| NC_000023.9:g.53281110G>T | NCBI36 |
| NG_021296.1:g.91138C>A | |
| NG_021296.2:g.91148C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3661-19C>A | ENSP00000516672.1:n.3661-19C>A | |
| ENST00000638521.1:c.1453+580C>A | ||
| ENST00000638869.1:c.962+580C>A | ||
| ENST00000639796.1:c.316+1119C>A | ENSP00000492252.1:n.316+1119C>A | |
| ENST00000640005.1:c.514+1119C>A | ENSP00000491293.1:n.514+1119C>A | |
| ENST00000640436.1:n.482-19C>A | ||
| ENST00000640694.1:c.3452-19C>A | ENSP00000492403.1:n.3452-19C>A | |
| ENST00000642864.1:c.3502-19C>A MANE Select | ENSP00000495726.1:n.3502-19C>A | |
| ENST00000674510.1:c.3502-19C>A | ENSP00000502054.1:n.3502-19C>A | |
| ENST00000675719.1:c.3472-19C>A | ENSP00000501927.1:n.3472-19C>A | |
| ENST00000375365.2:c.2837-19C>A | ENSP00000364514.2:n.2837-19C>A | |
| ENST00000396435.7:c.3502-19C>A | ENSP00000379712.3:n.3502-19C>A | |
| NM_001111125.2:c.3502-19C>A | NP_001104595.1:n.3502-19C>A | |
| NM_015075.1:c.2837-19C>A | NP_055890.1:n.2837-19C>A | |
| XM_006724579.2:c.3598-19C>A | XP_006724642.1:n.3598-19C>A | |
| XM_006724580.2:c.2887-19C>A | XP_006724643.1:n.2887-19C>A | |
| XM_006724581.2:c.3597+580C>A | XP_006724644.1:n.3597+580C>A | |
| XM_006724582.2:c.3597+580C>A | XP_006724645.1:n.3597+580C>A | |
| XM_006724583.2:c.3547+1119C>A | XP_006724646.1:n.3547+1119C>A | |
| XM_006724584.2:c.3548-19C>A | XP_006724647.1:n.3548-19C>A | |
| XM_011530772.1:c.2824-19C>A | XP_011529074.1:n.2824-19C>A | |
| XM_011530773.1:c.2791-19C>A | XP_011529075.1:n.2791-19C>A | |
| XM_011530775.1:c.3547+1119C>A | XP_011529077.1:n.3547+1119C>A | |
| XM_006724579.3:c.3598-19C>A | XP_006724642.1:n.3598-19C>A | |
| XM_006724580.3:c.2887-19C>A | XP_006724643.1:n.2887-19C>A | |
| XM_006724581.4:c.3597+580C>A | XP_006724644.1:n.3597+580C>A | |
| XM_006724582.4:c.3597+580C>A | XP_006724645.1:n.3597+580C>A | |
| XM_006724583.4:c.3547+1119C>A | XP_006724646.1:n.3547+1119C>A | |
| XM_006724584.3:c.3548-19C>A | XP_006724647.1:n.3548-19C>A | |
| XM_011530773.2:c.2791-19C>A | XP_011529075.1:n.2791-19C>A | |
| XM_017029359.2:c.3472-19C>A | XP_016884848.1:n.3472-19C>A | |
| XM_017029360.1:c.3004-19C>A | XP_016884849.1:n.3004-19C>A | |
| NM_001111125.3:c.3502-19C>A MANE Select | NP_001104595.1:n.3502-19C>A | |
| NM_015075.2:c.2837-19C>A | NP_055890.1:n.2837-19C>A |