Canonical Allele Identifier: CA401523576

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1331580010
• gnomAD v2: 17-79826809-C-G
• gnomAD v3: 17-81868933-C-G
• gnomAD v4: 17-81868933-C-G
• MyVariant Identifiers: chr17:g.79826809C>G (hg19) ; chr17:g.81868933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868933C>G , CM000679.2:g.81868933C>G	GRCh38
NC_000017.10:g.79826809C>G , CM000679.1:g.79826809C>G	GRCh37
NC_000017.9:g.77420098C>G	NCBI36
NG_034210.1:g.7474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.558G>C MANE Select	ENSP00000269321.7:p.Lys186Asn
ENST00000269321.11:c.558G>C	ENSP00000269321.7:p.Lys186Asn
ENST00000400721.8:c.426G>C	ENSP00000383556.4:p.Lys142Asn
ENST00000541078.6:c.558G>C	ENSP00000441348.2:p.Lys186Asn
ENST00000579121.5:c.502+56G>C	ENSP00000462960.1:n.502+56G>C
ENST00000580033.5:c.*202G>C	ENSP00000463530.1:n.*202G>C
ENST00000580685.5:c.558G>C	ENSP00000464205.1:p.Lys186Asn
ENST00000581876.5:c.333G>C	ENSP00000461956.1:p.Lys111Asn
ENST00000582984.5:n.760G>C
ENST00000583868.5:c.446G>C	ENSP00000462209.1:p.Arg149Thr
ENST00000584461.5:c.502+56G>C	ENSP00000463939.1:n.502+56G>C
NM_001185077.2:c.558G>C	NP_001172006.1:p.Lys186Asn
NM_001185078.2:c.426G>C	NP_001172007.1:p.Lys142Asn
NM_001301240.1:c.502+56G>C	NP_001288169.1:n.502+56G>C
NM_001301241.1:c.502+56G>C	NP_001288170.1:n.502+56G>C
NM_001301242.1:c.446G>C	NP_001288171.1:p.Arg149Thr
NM_001301243.1:c.693G>C	NP_001288172.1:p.Lys231Asn
NM_004309.5:c.558G>C	NP_004300.1:p.Lys186Asn
NR_125441.1:n.617G>C
XM_011523574.1:c.693G>C	XP_011521876.1:p.Lys231Asn
NM_004309.6:c.558G>C MANE Select	NP_004300.1:p.Lys186Asn
NM_001185077.3:c.558G>C	NP_001172006.1:p.Lys186Asn
NM_001185078.3:c.426G>C	NP_001172007.1:p.Lys142Asn
NM_001301240.2:c.502+56G>C	NP_001288169.1:n.502+56G>C
NM_001301241.2:c.502+56G>C	NP_001288170.1:n.502+56G>C
NM_001301242.2:c.446G>C	NP_001288171.1:p.Arg149Thr
NM_001301243.2:c.693G>C	NP_001288172.1:p.Lys231Asn
NR_125441.2:n.548G>C