Canonical Allele Identifier: CA2553552

Gene: ARHGAP31

Linked Data

• ClinVar Variation Id: 342629
• ClinVar RCV Id: RCV000893532 ; RCV002259909
• dbSNP Id: rs150339878
• ExAC: 3:119099786 G / C
• gnomAD v2: 3-119099786-G-C
• gnomAD v3: 3-119380939-G-C
• gnomAD v4: 3-119380939-G-C
• MyVariant Identifiers: chr3:g.119099786G>C (hg19) ; chr3:g.119380939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119380939G>C , CM000665.2:g.119380939G>C	GRCh38
NC_000003.11:g.119099786G>C , CM000665.1:g.119099786G>C	GRCh37
NC_000003.10:g.120582476G>C	NCBI36
NG_007665.2:g.91567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.384G>C MANE Select	ENSP00000264245.4:p.Leu128=
ENST00000264245.8:c.384G>C	ENSP00000264245.4:p.Leu128=
ENST00000482743.1:c.297G>C	ENSP00000418429.1:p.Leu99=
NM_020754.3:c.384G>C	NP_065805.2:p.Leu128=
XM_005247671.3:c.291G>C	XP_005247728.1:p.Leu97=
XM_006713714.2:c.384G>C	XP_006713777.1:p.Leu128=
XM_006713714.3:c.384G>C	XP_006713777.1:p.Leu128=
XM_017006955.1:c.-109G>C	XP_016862444.1:n.-109G>C
NM_020754.4:c.384G>C MANE Select	NP_065805.2:p.Leu128=