Canonical Allele Identifier: CA2554038

Gene: ARHGAP31

Linked Data

• dbSNP Id: rs763998234
• ExAC: 3:119133202 C / T
• gnomAD v2: 3-119133202-C-T
• gnomAD v4: 3-119414355-C-T
• MyVariant Identifiers: chr3:g.119133202C>T (hg19) ; chr3:g.119414355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119414355C>T , CM000665.2:g.119414355C>T	GRCh38
NC_000003.11:g.119133202C>T , CM000665.1:g.119133202C>T	GRCh37
NC_000003.10:g.120615892C>T	NCBI36
NG_007665.2:g.124983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.2426C>T MANE Select	ENSP00000264245.4:p.Ser809Leu
ENST00000264245.8:c.2426C>T	ENSP00000264245.4:p.Ser809Leu
NM_020754.3:c.2426C>T	NP_065805.2:p.Ser809Leu
XM_005247671.3:c.2333C>T	XP_005247728.1:p.Ser778Leu
XM_006713714.2:c.2366C>T	XP_006713777.1:p.Ser789Leu
XM_006713714.3:c.2366C>T	XP_006713777.1:p.Ser789Leu
XM_017006955.1:c.1934C>T	XP_016862444.1:p.Ser645Leu
NM_020754.4:c.2426C>T MANE Select	NP_065805.2:p.Ser809Leu