Canonical Allele Identifier: CA8843210

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs764242077
• ExAC: 17:79826863 A / G
• gnomAD v2: 17-79826863-A-G
• gnomAD v3: 17-81868987-A-G
• gnomAD v4: 17-81868987-A-G
• MyVariant Identifiers: chr17:g.79826863A>G (hg19) ; chr17:g.81868987A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868987A>G , CM000679.2:g.81868987A>G	GRCh38
NC_000017.10:g.79826863A>G , CM000679.1:g.79826863A>G	GRCh37
NC_000017.9:g.77420152A>G	NCBI36
NG_034210.1:g.7420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.504T>C MANE Select	ENSP00000269321.7:p.Gly168=
ENST00000269321.11:c.504T>C	ENSP00000269321.7:p.Gly168=
ENST00000400721.8:c.416-44T>C	ENSP00000383556.4:n.416-44T>C
ENST00000541078.6:c.504T>C	ENSP00000441348.2:p.Gly168=
ENST00000579121.5:c.502+2T>C	ENSP00000462960.1:n.502+2T>C
ENST00000580033.5:c.*148T>C	ENSP00000463530.1:n.*148T>C
ENST00000580685.5:c.504T>C	ENSP00000464205.1:p.Gly168=
ENST00000581876.5:c.279T>C	ENSP00000461956.1:p.Gly93=
ENST00000582984.5:n.706T>C
ENST00000583868.5:c.436-44T>C	ENSP00000462209.1:n.436-44T>C
ENST00000584461.5:c.502+2T>C	ENSP00000463939.1:n.502+2T>C
NM_001185077.2:c.504T>C	NP_001172006.1:p.Gly168=
NM_001185078.2:c.416-44T>C	NP_001172007.1:n.416-44T>C
NM_001301240.1:c.502+2T>C	NP_001288169.1:n.502+2T>C
NM_001301241.1:c.502+2T>C	NP_001288170.1:n.502+2T>C
NM_001301242.1:c.436-44T>C	NP_001288171.1:n.436-44T>C
NM_001301243.1:c.639T>C	NP_001288172.1:p.Gly213=
NM_004309.5:c.504T>C	NP_004300.1:p.Gly168=
NR_125441.1:n.563T>C
XM_011523574.1:c.639T>C	XP_011521876.1:p.Gly213=
NM_004309.6:c.504T>C MANE Select	NP_004300.1:p.Gly168=
NM_001185077.3:c.504T>C	NP_001172006.1:p.Gly168=
NM_001185078.3:c.416-44T>C	NP_001172007.1:n.416-44T>C
NM_001301240.2:c.502+2T>C	NP_001288169.1:n.502+2T>C
NM_001301241.2:c.502+2T>C	NP_001288170.1:n.502+2T>C
NM_001301242.2:c.436-44T>C	NP_001288171.1:n.436-44T>C
NM_001301243.2:c.639T>C	NP_001288172.1:p.Gly213=
NR_125441.2:n.494T>C