Linked Data
ClinVar Variation Id:
769197
ClinVar RCV Id:
RCV000948176
dbSNP Id:
rs3810651
gnomAD v3:
X-152652814-A-T
gnomAD v4:
X-152652814-A-T
MyVariant Identifiers:
chrX:g.152652814A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152652814A>T , CM000685.2:g.152652814A>T | GRCh38 |
| NG_015965.2:g.19632A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598523.3:c.1432A>T (GABRQ) MANE Select | ENSP00000469332.1:p.Ile478Phe | |
| ENST00000598523.2:c.1432A>T (GABRQ) | ENSP00000469332.1:p.Ile478Phe | |
| NM_018558.3:c.1432A>T (GABRQ) | NP_061028.3:p.Ile478Phe | |
| XM_011531184.1:c.1158+1032A>T (GABRQ) | XP_011529486.1:n.1158+1032A>T | |
| XR_938524.1:n.144-13020T>A (MAGEA3-DT) | ||
| XR_938525.1:n.144-13020T>A (MAGEA3-DT) | ||
| XR_938526.1:n.144-13020T>A (MAGEA3-DT) | ||
| XR_938527.1:n.144-16827T>A (MAGEA3-DT) | ||
| XM_011531184.3:c.1158+1032A>T (GABRQ) | XP_011529486.1:n.1158+1032A>T | |
| XR_001755975.1:n.126-13020T>A (MAGEA3-DT) | ||
| XR_001755976.1:n.126-16827T>A (MAGEA3-DT) | ||
| XR_938525.2:n.126-13020T>A (MAGEA3-DT) | ||
| NM_018558.4:c.1432A>T (GABRQ) MANE Select | NP_061028.3:p.Ile478Phe |