Canonical Allele Identifier: CA401523938

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81869007-C-A
• MyVariant Identifiers: chr17:g.79826883C>A (hg19) ; chr17:g.81869007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869007C>A , CM000679.2:g.81869007C>A	GRCh38
NC_000017.10:g.79826883C>A , CM000679.1:g.79826883C>A	GRCh37
NC_000017.9:g.77420172C>A	NCBI36
NG_034210.1:g.7400G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.484G>T MANE Select	ENSP00000269321.7:p.Val162Leu
ENST00000269321.11:c.484G>T	ENSP00000269321.7:p.Val162Leu
ENST00000400721.8:c.416-64G>T	ENSP00000383556.4:n.416-64G>T
ENST00000541078.6:c.484G>T	ENSP00000441348.2:p.Val162Leu
ENST00000579121.5:c.484G>T	ENSP00000462960.1:p.Val162Leu
ENST00000580033.5:c.*128G>T	ENSP00000463530.1:n.*128G>T
ENST00000580685.5:c.484G>T	ENSP00000464205.1:p.Val162Leu
ENST00000581876.5:c.259G>T	ENSP00000461956.1:p.Val87Leu
ENST00000582984.5:n.686G>T
ENST00000583791.1:n.348G>T
ENST00000583868.5:c.435+49G>T	ENSP00000462209.1:n.435+49G>T
ENST00000584461.5:c.484G>T	ENSP00000463939.1:p.Val162Leu
NM_001185077.2:c.484G>T	NP_001172006.1:p.Val162Leu
NM_001185078.2:c.416-64G>T	NP_001172007.1:n.416-64G>T
NM_001301240.1:c.484G>T	NP_001288169.1:p.Val162Leu
NM_001301241.1:c.484G>T	NP_001288170.1:p.Val162Leu
NM_001301242.1:c.435+49G>T	NP_001288171.1:n.435+49G>T
NM_001301243.1:c.619G>T	NP_001288172.1:p.Val207Leu
NM_004309.5:c.484G>T	NP_004300.1:p.Val162Leu
NR_125441.1:n.543G>T
XM_011523574.1:c.619G>T	XP_011521876.1:p.Val207Leu
NM_004309.6:c.484G>T MANE Select	NP_004300.1:p.Val162Leu
NM_001185077.3:c.484G>T	NP_001172006.1:p.Val162Leu
NM_001185078.3:c.416-64G>T	NP_001172007.1:n.416-64G>T
NM_001301240.2:c.484G>T	NP_001288169.1:p.Val162Leu
NM_001301241.2:c.484G>T	NP_001288170.1:p.Val162Leu
NM_001301242.2:c.435+49G>T	NP_001288171.1:n.435+49G>T
NM_001301243.2:c.619G>T	NP_001288172.1:p.Val207Leu
NR_125441.2:n.474G>T