Canonical Allele Identifier: CA8843306

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs769871113
• ExAC: 17:79827207 C / A
• gnomAD v2: 17-79827207-C-A
• gnomAD v4: 17-81869331-C-A
• MyVariant Identifiers: chr17:g.79827207C>A (hg19) ; chr17:g.81869331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869331C>A , CM000679.2:g.81869331C>A	GRCh38
NC_000017.10:g.79827207C>A , CM000679.1:g.79827207C>A	GRCh37
NC_000017.9:g.77420496C>A	NCBI36
NG_034210.1:g.7076G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.350G>T MANE Select	ENSP00000269321.7:p.Arg117Leu
ENST00000269321.11:c.350G>T	ENSP00000269321.7:p.Arg117Leu
ENST00000400721.8:c.350G>T	ENSP00000383556.4:p.Arg117Leu
ENST00000541078.6:c.350G>T	ENSP00000441348.2:p.Arg117Leu
ENST00000578351.1:c.275-95G>T	ENSP00000462323.1:n.275-95G>T
ENST00000579121.5:c.350G>T	ENSP00000462960.1:p.Arg117Leu
ENST00000580033.5:c.275-95G>T	ENSP00000463530.1:n.275-95G>T
ENST00000580685.5:c.350G>T	ENSP00000464205.1:p.Arg117Leu
ENST00000581876.5:c.191-256G>T	ENSP00000461956.1:n.191-256G>T
ENST00000582984.5:n.552G>T
ENST00000583111.5:n.409G>T
ENST00000583791.1:n.121G>T
ENST00000583868.5:c.350G>T	ENSP00000462209.1:p.Arg117Leu
ENST00000584397.1:n.593G>T
ENST00000584461.5:c.350G>T	ENSP00000463939.1:p.Arg117Leu
NM_001185077.2:c.350G>T	NP_001172006.1:p.Arg117Leu
NM_001185078.2:c.350G>T	NP_001172007.1:p.Arg117Leu
NM_001301240.1:c.350G>T	NP_001288169.1:p.Arg117Leu
NM_001301241.1:c.350G>T	NP_001288170.1:p.Arg117Leu
NM_001301242.1:c.350G>T	NP_001288171.1:p.Arg117Leu
NM_001301243.1:c.485G>T	NP_001288172.1:p.Arg162Leu
NM_004309.5:c.350G>T	NP_004300.1:p.Arg117Leu
NR_125441.1:n.411-95G>T
XM_011523574.1:c.485G>T	XP_011521876.1:p.Arg162Leu
NM_004309.6:c.350G>T MANE Select	NP_004300.1:p.Arg117Leu
NM_001185077.3:c.350G>T	NP_001172006.1:p.Arg117Leu
NM_001185078.3:c.350G>T	NP_001172007.1:p.Arg117Leu
NM_001301240.2:c.350G>T	NP_001288169.1:p.Arg117Leu
NM_001301241.2:c.350G>T	NP_001288170.1:p.Arg117Leu
NM_001301242.2:c.350G>T	NP_001288171.1:p.Arg117Leu
NM_001301243.2:c.485G>T	NP_001288172.1:p.Arg162Leu
NR_125441.2:n.342-95G>T