Canonical Allele Identifier: CA8843197

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs756887960
• ExAC: 17:79826788 C / G
• gnomAD v2: 17-79826788-C-G
• gnomAD v3: 17-81868912-C-G
• gnomAD v4: 17-81868912-C-G
• MyVariant Identifiers: chr17:g.79826788C>G (hg19) ; chr17:g.81868912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868912C>G , CM000679.2:g.81868912C>G	GRCh38
NC_000017.10:g.79826788C>G , CM000679.1:g.79826788C>G	GRCh37
NC_000017.9:g.77420077C>G	NCBI36
NG_034210.1:g.7495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.579G>C MANE Select	ENSP00000269321.7:p.Glu193Asp
ENST00000269321.11:c.579G>C	ENSP00000269321.7:p.Glu193Asp
ENST00000400721.8:c.447G>C	ENSP00000383556.4:p.Glu149Asp
ENST00000541078.6:c.579G>C	ENSP00000441348.2:p.Glu193Asp
ENST00000579121.5:c.502+77G>C	ENSP00000462960.1:n.502+77G>C
ENST00000580685.5:c.579G>C	ENSP00000464205.1:p.Glu193Asp
ENST00000581876.5:c.354G>C	ENSP00000461956.1:p.Glu118Asp
ENST00000582984.5:n.781G>C
ENST00000583868.5:c.467G>C	ENSP00000462209.1:p.Ser156Thr
ENST00000584461.5:c.502+77G>C	ENSP00000463939.1:n.502+77G>C
NM_001185077.2:c.579G>C	NP_001172006.1:p.Glu193Asp
NM_001185078.2:c.447G>C	NP_001172007.1:p.Glu149Asp
NM_001301240.1:c.502+77G>C	NP_001288169.1:n.502+77G>C
NM_001301241.1:c.502+77G>C	NP_001288170.1:n.502+77G>C
NM_001301242.1:c.467G>C	NP_001288171.1:p.Ser156Thr
NM_001301243.1:c.714G>C	NP_001288172.1:p.Glu238Asp
NM_004309.5:c.579G>C	NP_004300.1:p.Glu193Asp
NR_125441.1:n.638G>C
XM_011523574.1:c.714G>C	XP_011521876.1:p.Glu238Asp
NM_004309.6:c.579G>C MANE Select	NP_004300.1:p.Glu193Asp
NM_001185077.3:c.579G>C	NP_001172006.1:p.Glu193Asp
NM_001185078.3:c.447G>C	NP_001172007.1:p.Glu149Asp
NM_001301240.2:c.502+77G>C	NP_001288169.1:n.502+77G>C
NM_001301241.2:c.502+77G>C	NP_001288170.1:n.502+77G>C
NM_001301242.2:c.467G>C	NP_001288171.1:p.Ser156Thr
NM_001301243.2:c.714G>C	NP_001288172.1:p.Glu238Asp
NR_125441.2:n.569G>C