Canonical Allele Identifier: CA337167427
Gene: GABRQ HGNC NCBI
MAGEA3-DT HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.152652814A>T
gnomAD v3:
X:152652814 A / T
gnomAD v4:
chrX-152652814-A-T
Joint Max Group AF 0.67197407 (EAS)
Genomes Max Group AF 0.64468686 (EAS)
Exomes Max Group AF 0.67291455 (EAS)
ClinVar RCV:
RCV000948176
ClinVar Variation:
769197
dbSNP:
3810651
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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
Search 100 bp 5'
Search 100 bp 3'