Canonical Allele Identifier: CA163430
Gene: ARHGDIA HGNC NCBI

Linked Data

ClinVar Variation Id: 140593
ClinVar RCV Id: RCV000128808
dbSNP Id: rs587777552

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81868973C>A , CM000679.2:g.81868973C>A GRCh38
NC_000017.10:g.79826849C>A , CM000679.1:g.79826849C>A GRCh37
NC_000017.9:g.77420138C>A NCBI36
NG_034210.1:g.7434G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269321.12:c.518G>T MANE Select ENSP00000269321.7:p.Gly173Val
ENST00000269321.11:c.518G>T ENSP00000269321.7:p.Gly173Val
ENST00000400721.8:c.416-30G>T ENSP00000383556.4:n.416-30G>T
ENST00000541078.6:c.518G>T ENSP00000441348.2:p.Gly173Val
ENST00000579121.5:c.502+16G>T ENSP00000462960.1:n.502+16G>T
ENST00000580033.5:c.*162G>T ENSP00000463530.1:n.*162G>T
ENST00000580685.5:c.518G>T ENSP00000464205.1:p.Gly173Val
ENST00000581876.5:c.293G>T ENSP00000461956.1:p.Gly98Val
ENST00000582984.5:n.720G>T
ENST00000583868.5:c.436-30G>T ENSP00000462209.1:n.436-30G>T
ENST00000584461.5:c.502+16G>T ENSP00000463939.1:n.502+16G>T
NM_001185077.2:c.518G>T NP_001172006.1:p.Gly173Val
NM_001185078.2:c.416-30G>T NP_001172007.1:n.416-30G>T
NM_001301240.1:c.502+16G>T NP_001288169.1:n.502+16G>T
NM_001301241.1:c.502+16G>T NP_001288170.1:n.502+16G>T
NM_001301242.1:c.436-30G>T NP_001288171.1:n.436-30G>T
NM_001301243.1:c.653G>T NP_001288172.1:p.Gly218Val
NM_004309.5:c.518G>T NP_004300.1:p.Gly173Val
NR_125441.1:n.577G>T
XM_011523574.1:c.653G>T XP_011521876.1:p.Gly218Val
NM_004309.6:c.518G>T MANE Select NP_004300.1:p.Gly173Val
NM_001185077.3:c.518G>T NP_001172006.1:p.Gly173Val
NM_001185078.3:c.416-30G>T NP_001172007.1:n.416-30G>T
NM_001301240.2:c.502+16G>T NP_001288169.1:n.502+16G>T
NM_001301241.2:c.502+16G>T NP_001288170.1:n.502+16G>T
NM_001301242.2:c.436-30G>T NP_001288171.1:n.436-30G>T
NM_001301243.2:c.653G>T NP_001288172.1:p.Gly218Val
NR_125441.2:n.508G>T