Canonical Allele Identifier: CA2553884
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 342649
ClinVar RCV Id: RCV001516923 RCV002259917
dbSNP Id: rs2305249
ExAC: 3:119128398 G / A
gnomAD v2: 3-119128398-G-A
gnomAD v3: 3-119409551-G-A
gnomAD v4: 3-119409551-G-A
MyVariant Identifiers: chr3:g.119128398G>A (hg19) chr3:g.119409551G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119409551G>A , CM000665.2:g.119409551G>A GRCh38
NC_000003.11:g.119128398G>A , CM000665.1:g.119128398G>A GRCh37
NC_000003.10:g.120611088G>A NCBI36
NG_007665.2:g.120179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.1701G>A MANE Select ENSP00000264245.4:p.Pro567=
ENST00000264245.8:c.1701G>A ENSP00000264245.4:p.Pro567=
NM_020754.3:c.1701G>A NP_065805.2:p.Pro567=
XM_005247671.3:c.1608G>A XP_005247728.1:p.Pro536=
XM_006713714.2:c.1641G>A XP_006713777.1:p.Pro547=
XM_006713714.3:c.1641G>A XP_006713777.1:p.Pro547=
XM_017006955.1:c.1209G>A XP_016862444.1:p.Pro403=
NM_020754.4:c.1701G>A MANE Select NP_065805.2:p.Pro567=
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