Canonical Allele Identifier: CA401524353

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 2876225
• ClinVar RCV Id: RCV003710131
• MyVariant Identifiers: chr17:g.79827076G>T (hg19) ; chr17:g.81869200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869200G>T , CM000679.2:g.81869200G>T	GRCh38
NC_000017.10:g.79827076G>T , CM000679.1:g.79827076G>T	GRCh37
NC_000017.9:g.77420365G>T	NCBI36
NG_034210.1:g.7207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.388C>A MANE Select	ENSP00000269321.7:p.Gln130Lys
ENST00000269321.11:c.388C>A	ENSP00000269321.7:p.Gln130Lys
ENST00000400721.8:c.388C>A	ENSP00000383556.4:p.Gln130Lys
ENST00000541078.6:c.388C>A	ENSP00000441348.2:p.Gln130Lys
ENST00000578351.1:c.*32C>A	ENSP00000462323.1:n.*32C>A
ENST00000579121.5:c.388C>A	ENSP00000462960.1:p.Gln130Lys
ENST00000580033.5:c.*32C>A	ENSP00000463530.1:n.*32C>A
ENST00000580685.5:c.388C>A	ENSP00000464205.1:p.Gln130Lys
ENST00000581876.5:c.191-125C>A	ENSP00000461956.1:n.191-125C>A
ENST00000582984.5:n.590C>A
ENST00000583111.5:n.540C>A
ENST00000583791.1:n.252C>A
ENST00000583868.5:c.388C>A	ENSP00000462209.1:p.Gln130Lys
ENST00000584461.5:c.388C>A	ENSP00000463939.1:p.Gln130Lys
NM_001185077.2:c.388C>A	NP_001172006.1:p.Gln130Lys
NM_001185078.2:c.388C>A	NP_001172007.1:p.Gln130Lys
NM_001301240.1:c.388C>A	NP_001288169.1:p.Gln130Lys
NM_001301241.1:c.388C>A	NP_001288170.1:p.Gln130Lys
NM_001301242.1:c.388C>A	NP_001288171.1:p.Gln130Lys
NM_001301243.1:c.523C>A	NP_001288172.1:p.Gln175Lys
NM_004309.5:c.388C>A	NP_004300.1:p.Gln130Lys
NR_125441.1:n.447C>A
XM_011523574.1:c.523C>A	XP_011521876.1:p.Gln175Lys
NM_004309.6:c.388C>A MANE Select	NP_004300.1:p.Gln130Lys
NM_001185077.3:c.388C>A	NP_001172006.1:p.Gln130Lys
NM_001185078.3:c.388C>A	NP_001172007.1:p.Gln130Lys
NM_001301240.2:c.388C>A	NP_001288169.1:p.Gln130Lys
NM_001301241.2:c.388C>A	NP_001288170.1:p.Gln130Lys
NM_001301242.2:c.388C>A	NP_001288171.1:p.Gln130Lys
NM_001301243.2:c.523C>A	NP_001288172.1:p.Gln175Lys
NR_125441.2:n.378C>A