Canonical Allele Identifier: CA354051338

Gene: ARHGAP31

Linked Data

• ClinVar Variation Id: 2094678
• ClinVar RCV Id: RCV003010374
• gnomAD v4: 3-119414377-T-G
• MyVariant Identifiers: chr3:g.119133224T>G (hg19) ; chr3:g.119414377T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119414377T>G , CM000665.2:g.119414377T>G	GRCh38
NC_000003.11:g.119133224T>G , CM000665.1:g.119133224T>G	GRCh37
NC_000003.10:g.120615914T>G	NCBI36
NG_007665.2:g.125005T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.2448T>G MANE Select	ENSP00000264245.4:p.Asp816Glu
ENST00000264245.8:c.2448T>G	ENSP00000264245.4:p.Asp816Glu
NM_020754.3:c.2448T>G	NP_065805.2:p.Asp816Glu
XM_005247671.3:c.2355T>G	XP_005247728.1:p.Asp785Glu
XM_006713714.2:c.2388T>G	XP_006713777.1:p.Asp796Glu
XM_006713714.3:c.2388T>G	XP_006713777.1:p.Asp796Glu
XM_017006955.1:c.1956T>G	XP_016862444.1:p.Asp652Glu
NM_020754.4:c.2448T>G MANE Select	NP_065805.2:p.Asp816Glu