Canonical Allele Identifier: CA401524655

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 3033572
• ClinVar RCV Id: RCV003911568
• MyVariant Identifiers: chr17:g.79827226G>C (hg19) ; chr17:g.81869350G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869350G>C , CM000679.2:g.81869350G>C	GRCh38
NC_000017.10:g.79827226G>C , CM000679.1:g.79827226G>C	GRCh37
NC_000017.9:g.77420515G>C	NCBI36
NG_034210.1:g.7057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.331C>G MANE Select	ENSP00000269321.7:p.Arg111Gly
ENST00000269321.11:c.331C>G	ENSP00000269321.7:p.Arg111Gly
ENST00000400721.8:c.331C>G	ENSP00000383556.4:p.Arg111Gly
ENST00000541078.6:c.331C>G	ENSP00000441348.2:p.Arg111Gly
ENST00000578351.1:c.275-114C>G	ENSP00000462323.1:n.275-114C>G
ENST00000579121.5:c.331C>G	ENSP00000462960.1:p.Arg111Gly
ENST00000580033.5:c.275-114C>G	ENSP00000463530.1:n.275-114C>G
ENST00000580685.5:c.331C>G	ENSP00000464205.1:p.Arg111Gly
ENST00000581876.5:c.191-275C>G	ENSP00000461956.1:n.191-275C>G
ENST00000582984.5:n.533C>G
ENST00000583111.5:n.390C>G
ENST00000583791.1:n.102C>G
ENST00000583868.5:c.331C>G	ENSP00000462209.1:p.Arg111Gly
ENST00000584397.1:n.574C>G
ENST00000584461.5:c.331C>G	ENSP00000463939.1:p.Arg111Gly
NM_001185077.2:c.331C>G	NP_001172006.1:p.Arg111Gly
NM_001185078.2:c.331C>G	NP_001172007.1:p.Arg111Gly
NM_001301240.1:c.331C>G	NP_001288169.1:p.Arg111Gly
NM_001301241.1:c.331C>G	NP_001288170.1:p.Arg111Gly
NM_001301242.1:c.331C>G	NP_001288171.1:p.Arg111Gly
NM_001301243.1:c.466C>G	NP_001288172.1:p.Arg156Gly
NM_004309.5:c.331C>G	NP_004300.1:p.Arg111Gly
NR_125441.1:n.411-114C>G
XM_011523574.1:c.466C>G	XP_011521876.1:p.Arg156Gly
NM_004309.6:c.331C>G MANE Select	NP_004300.1:p.Arg111Gly
NM_001185077.3:c.331C>G	NP_001172006.1:p.Arg111Gly
NM_001185078.3:c.331C>G	NP_001172007.1:p.Arg111Gly
NM_001301240.2:c.331C>G	NP_001288169.1:p.Arg111Gly
NM_001301241.2:c.331C>G	NP_001288170.1:p.Arg111Gly
NM_001301242.2:c.331C>G	NP_001288171.1:p.Arg111Gly
NM_001301243.2:c.466C>G	NP_001288172.1:p.Arg156Gly
NR_125441.2:n.342-114C>G