Canonical Allele Identifier: CA295137923

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1055384334
• gnomAD v2: 17-79827051-T-C
• gnomAD v4: 17-81869175-T-C
• MyVariant Identifiers: chr17:g.79827051T>C (hg19) ; chr17:g.81869175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869175T>C , CM000679.2:g.81869175T>C	GRCh38
NC_000017.10:g.79827051T>C , CM000679.1:g.79827051T>C	GRCh37
NC_000017.9:g.77420340T>C	NCBI36
NG_034210.1:g.7232A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.413A>G MANE Select	ENSP00000269321.7:p.Lys138Arg
ENST00000269321.11:c.413A>G	ENSP00000269321.7:p.Lys138Arg
ENST00000400721.8:c.413A>G	ENSP00000383556.4:p.Lys138Arg
ENST00000541078.6:c.413A>G	ENSP00000441348.2:p.Lys138Arg
ENST00000578351.1:c.*57A>G	ENSP00000462323.1:n.*57A>G
ENST00000579121.5:c.413A>G	ENSP00000462960.1:p.Lys138Arg
ENST00000580033.5:c.*57A>G	ENSP00000463530.1:n.*57A>G
ENST00000580685.5:c.413A>G	ENSP00000464205.1:p.Lys138Arg
ENST00000581876.5:c.191-100A>G	ENSP00000461956.1:n.191-100A>G
ENST00000582984.5:n.615A>G
ENST00000583111.5:n.565A>G
ENST00000583791.1:n.277A>G
ENST00000583868.5:c.413A>G	ENSP00000462209.1:p.Lys138Arg
ENST00000584461.5:c.413A>G	ENSP00000463939.1:p.Lys138Arg
NM_001185077.2:c.413A>G	NP_001172006.1:p.Lys138Arg
NM_001185078.2:c.413A>G	NP_001172007.1:p.Lys138Arg
NM_001301240.1:c.413A>G	NP_001288169.1:p.Lys138Arg
NM_001301241.1:c.413A>G	NP_001288170.1:p.Lys138Arg
NM_001301242.1:c.413A>G	NP_001288171.1:p.Lys138Arg
NM_001301243.1:c.548A>G	NP_001288172.1:p.Lys183Arg
NM_004309.5:c.413A>G	NP_004300.1:p.Lys138Arg
NR_125441.1:n.472A>G
XM_011523574.1:c.548A>G	XP_011521876.1:p.Lys183Arg
NM_004309.6:c.413A>G MANE Select	NP_004300.1:p.Lys138Arg
NM_001185077.3:c.413A>G	NP_001172006.1:p.Lys138Arg
NM_001185078.3:c.413A>G	NP_001172007.1:p.Lys138Arg
NM_001301240.2:c.413A>G	NP_001288169.1:p.Lys138Arg
NM_001301241.2:c.413A>G	NP_001288170.1:p.Lys138Arg
NM_001301242.2:c.413A>G	NP_001288171.1:p.Lys138Arg
NM_001301243.2:c.548A>G	NP_001288172.1:p.Lys183Arg
NR_125441.2:n.403A>G