Canonical Allele Identifier: CA354051340

Gene: ARHGAP31

Linked Data

• dbSNP Id: rs541827684
• gnomAD v2: 3-119133225-C-A
• gnomAD v4: 3-119414378-C-A
• MyVariant Identifiers: chr3:g.119133225C>A (hg19) ; chr3:g.119414378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119414378C>A , CM000665.2:g.119414378C>A	GRCh38
NC_000003.11:g.119133225C>A , CM000665.1:g.119133225C>A	GRCh37
NC_000003.10:g.120615915C>A	NCBI36
NG_007665.2:g.125006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.2449C>A MANE Select	ENSP00000264245.4:p.Leu817Ile
ENST00000264245.8:c.2449C>A	ENSP00000264245.4:p.Leu817Ile
NM_020754.3:c.2449C>A	NP_065805.2:p.Leu817Ile
XM_005247671.3:c.2356C>A	XP_005247728.1:p.Leu786Ile
XM_006713714.2:c.2389C>A	XP_006713777.1:p.Leu797Ile
XM_006713714.3:c.2389C>A	XP_006713777.1:p.Leu797Ile
XM_017006955.1:c.1957C>A	XP_016862444.1:p.Leu653Ile
NM_020754.4:c.2449C>A MANE Select	NP_065805.2:p.Leu817Ile