Canonical Allele Identifier: CA81697436

Gene: ARHGAP31

Linked Data

• dbSNP Id: rs200172467
• gnomAD v4: 3-119414078-G-T
• MyVariant Identifiers: chr3:g.119132925G>T (hg19) ; chr3:g.119414078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119414078G>T , CM000665.2:g.119414078G>T	GRCh38
NC_000003.11:g.119132925G>T , CM000665.1:g.119132925G>T	GRCh37
NC_000003.10:g.120615615G>T	NCBI36
NG_007665.2:g.124706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.2149G>T MANE Select	ENSP00000264245.4:p.Val717Leu
ENST00000264245.8:c.2149G>T	ENSP00000264245.4:p.Val717Leu
NM_020754.3:c.2149G>T	NP_065805.2:p.Val717Leu
XM_005247671.3:c.2056G>T	XP_005247728.1:p.Val686Leu
XM_006713714.2:c.2089G>T	XP_006713777.1:p.Val697Leu
XM_006713714.3:c.2089G>T	XP_006713777.1:p.Val697Leu
XM_017006955.1:c.1657G>T	XP_016862444.1:p.Val553Leu
NM_020754.4:c.2149G>T MANE Select	NP_065805.2:p.Val717Leu