Canonical Allele Identifier: CA401523602

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 2253277
• ClinVar RCV Id: RCV002782230
• MyVariant Identifiers: chr17:g.79826812G>C (hg19) ; chr17:g.81868936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868936G>C , CM000679.2:g.81868936G>C	GRCh38
NC_000017.10:g.79826812G>C , CM000679.1:g.79826812G>C	GRCh37
NC_000017.9:g.77420101G>C	NCBI36
NG_034210.1:g.7471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.555C>G MANE Select	ENSP00000269321.7:p.Asp185Glu
ENST00000269321.11:c.555C>G	ENSP00000269321.7:p.Asp185Glu
ENST00000400721.8:c.423C>G	ENSP00000383556.4:p.Asp141Glu
ENST00000541078.6:c.555C>G	ENSP00000441348.2:p.Asp185Glu
ENST00000579121.5:c.502+53C>G	ENSP00000462960.1:n.502+53C>G
ENST00000580033.5:c.*199C>G	ENSP00000463530.1:n.*199C>G
ENST00000580685.5:c.555C>G	ENSP00000464205.1:p.Asp185Glu
ENST00000581876.5:c.330C>G	ENSP00000461956.1:p.Asp110Glu
ENST00000582984.5:n.757C>G
ENST00000583868.5:c.443C>G	ENSP00000462209.1:p.Thr148Arg
ENST00000584461.5:c.502+53C>G	ENSP00000463939.1:n.502+53C>G
NM_001185077.2:c.555C>G	NP_001172006.1:p.Asp185Glu
NM_001185078.2:c.423C>G	NP_001172007.1:p.Asp141Glu
NM_001301240.1:c.502+53C>G	NP_001288169.1:n.502+53C>G
NM_001301241.1:c.502+53C>G	NP_001288170.1:n.502+53C>G
NM_001301242.1:c.443C>G	NP_001288171.1:p.Thr148Arg
NM_001301243.1:c.690C>G	NP_001288172.1:p.Asp230Glu
NM_004309.5:c.555C>G	NP_004300.1:p.Asp185Glu
NR_125441.1:n.614C>G
XM_011523574.1:c.690C>G	XP_011521876.1:p.Asp230Glu
NM_004309.6:c.555C>G MANE Select	NP_004300.1:p.Asp185Glu
NM_001185077.3:c.555C>G	NP_001172006.1:p.Asp185Glu
NM_001185078.3:c.423C>G	NP_001172007.1:p.Asp141Glu
NM_001301240.2:c.502+53C>G	NP_001288169.1:n.502+53C>G
NM_001301241.2:c.502+53C>G	NP_001288170.1:n.502+53C>G
NM_001301242.2:c.443C>G	NP_001288171.1:p.Thr148Arg
NM_001301243.2:c.690C>G	NP_001288172.1:p.Asp230Glu
NR_125441.2:n.545C>G