Canonical Allele Identifier: CA401521747

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868642-C-A
• MyVariant Identifiers: chr17:g.79826518C>A (hg19) ; chr17:g.81868642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868642C>A , CM000679.2:g.81868642C>A	GRCh38
NC_000017.10:g.79826518C>A , CM000679.1:g.79826518C>A	GRCh37
NC_000017.9:g.77419807C>A	NCBI36
NG_034210.1:g.7765G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*234G>T MANE Select	ENSP00000269321.7:n.*234G>T
ENST00000269321.11:c.*234G>T	ENSP00000269321.7:n.*234G>T
ENST00000400721.8:c.*234G>T	ENSP00000383556.4:n.*234G>T
ENST00000541078.6:c.*234G>T	ENSP00000441348.2:n.*234G>T
ENST00000579121.5:c.503-58G>T	ENSP00000462960.1:n.503-58G>T
ENST00000580685.5:c.*234G>T	ENSP00000464205.1:n.*234G>T
ENST00000581876.5:c.*234G>T	ENSP00000461956.1:n.*234G>T
ENST00000583868.5:c.737G>T	ENSP00000462209.1:p.Cys246Phe
ENST00000584461.5:c.503-58G>T	ENSP00000463939.1:n.503-58G>T
NM_001185077.2:c.*234G>T	NP_001172006.1:n.*234G>T
NM_001185078.2:c.*234G>T	NP_001172007.1:n.*234G>T
NM_001301240.1:c.503-58G>T	NP_001288169.1:n.503-58G>T
NM_001301241.1:c.503-58G>T	NP_001288170.1:n.503-58G>T
NM_001301242.1:c.737G>T	NP_001288171.1:p.Cys246Phe
NM_001301243.1:c.*234G>T	NP_001288172.1:n.*234G>T
NM_004309.5:c.*234G>T	NP_004300.1:n.*234G>T
NR_125441.1:n.908G>T
XM_011523574.1:c.*234G>T	XP_011521876.1:n.*234G>T
NM_004309.6:c.*234G>T MANE Select	NP_004300.1:n.*234G>T
NM_001185077.3:c.*234G>T	NP_001172006.1:n.*234G>T
NM_001185078.3:c.*234G>T	NP_001172007.1:n.*234G>T
NM_001301240.2:c.503-58G>T	NP_001288169.1:n.503-58G>T
NM_001301241.2:c.503-58G>T	NP_001288170.1:n.503-58G>T
NM_001301242.2:c.737G>T	NP_001288171.1:p.Cys246Phe
NM_001301243.2:c.*234G>T	NP_001288172.1:n.*234G>T
NR_125441.2:n.839G>T