Canonical Allele Identifier: CA295137920

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1021312970
• gnomAD v2: 17-79827050-C-T
• gnomAD v3: 17-81869174-C-T
• gnomAD v4: 17-81869174-C-T
• MyVariant Identifiers: chr17:g.79827050C>T (hg19) ; chr17:g.81869174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869174C>T , CM000679.2:g.81869174C>T	GRCh38
NC_000017.10:g.79827050C>T , CM000679.1:g.79827050C>T	GRCh37
NC_000017.9:g.77420339C>T	NCBI36
NG_034210.1:g.7233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.414G>A MANE Select	ENSP00000269321.7:p.Lys138=
ENST00000269321.11:c.414G>A	ENSP00000269321.7:p.Lys138=
ENST00000400721.8:c.414G>A	ENSP00000383556.4:p.Lys138=
ENST00000541078.6:c.414G>A	ENSP00000441348.2:p.Lys138=
ENST00000578351.1:c.*58G>A	ENSP00000462323.1:n.*58G>A
ENST00000579121.5:c.414G>A	ENSP00000462960.1:p.Lys138=
ENST00000580033.5:c.*58G>A	ENSP00000463530.1:n.*58G>A
ENST00000580685.5:c.414G>A	ENSP00000464205.1:p.Lys138=
ENST00000581876.5:c.191-99G>A	ENSP00000461956.1:n.191-99G>A
ENST00000582984.5:n.616G>A
ENST00000583111.5:n.566G>A
ENST00000583791.1:n.278G>A
ENST00000583868.5:c.414G>A	ENSP00000462209.1:p.Lys138=
ENST00000584461.5:c.414G>A	ENSP00000463939.1:p.Lys138=
NM_001185077.2:c.414G>A	NP_001172006.1:p.Lys138=
NM_001185078.2:c.414G>A	NP_001172007.1:p.Lys138=
NM_001301240.1:c.414G>A	NP_001288169.1:p.Lys138=
NM_001301241.1:c.414G>A	NP_001288170.1:p.Lys138=
NM_001301242.1:c.414G>A	NP_001288171.1:p.Lys138=
NM_001301243.1:c.549G>A	NP_001288172.1:p.Lys183=
NM_004309.5:c.414G>A	NP_004300.1:p.Lys138=
NR_125441.1:n.473G>A
XM_011523574.1:c.549G>A	XP_011521876.1:p.Lys183=
NM_004309.6:c.414G>A MANE Select	NP_004300.1:p.Lys138=
NM_001185077.3:c.414G>A	NP_001172006.1:p.Lys138=
NM_001185078.3:c.414G>A	NP_001172007.1:p.Lys138=
NM_001301240.2:c.414G>A	NP_001288169.1:p.Lys138=
NM_001301241.2:c.414G>A	NP_001288170.1:p.Lys138=
NM_001301242.2:c.414G>A	NP_001288171.1:p.Lys138=
NM_001301243.2:c.549G>A	NP_001288172.1:p.Lys183=
NR_125441.2:n.404G>A