Canonical Allele Identifier: CA2554041

Gene: ARHGAP31

Linked Data

• dbSNP Id: rs780215085
• ExAC: 3:119133214 T / C
• gnomAD v2: 3-119133214-T-C
• MyVariant Identifiers: chr3:g.119133214T>C (hg19) ; chr3:g.119414367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119414367T>C , CM000665.2:g.119414367T>C	GRCh38
NC_000003.11:g.119133214T>C , CM000665.1:g.119133214T>C	GRCh37
NC_000003.10:g.120615904T>C	NCBI36
NG_007665.2:g.124995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.2438T>C MANE Select	ENSP00000264245.4:p.Leu813Ser
ENST00000264245.8:c.2438T>C	ENSP00000264245.4:p.Leu813Ser
NM_020754.3:c.2438T>C	NP_065805.2:p.Leu813Ser
XM_005247671.3:c.2345T>C	XP_005247728.1:p.Leu782Ser
XM_006713714.2:c.2378T>C	XP_006713777.1:p.Leu793Ser
XM_006713714.3:c.2378T>C	XP_006713777.1:p.Leu793Ser
XM_017006955.1:c.1946T>C	XP_016862444.1:p.Leu649Ser
NM_020754.4:c.2438T>C MANE Select	NP_065805.2:p.Leu813Ser