Canonical Allele Identifier: CA8843125

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs780000070
• ExAC: 17:79826506 T / C
• gnomAD v2: 17-79826506-T-C
• gnomAD v3: 17-81868630-T-C
• gnomAD v4: 17-81868630-T-C
• MyVariant Identifiers: chr17:g.79826506T>C (hg19) ; chr17:g.81868630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868630T>C , CM000679.2:g.81868630T>C	GRCh38
NC_000017.10:g.79826506T>C , CM000679.1:g.79826506T>C	GRCh37
NC_000017.9:g.77419795T>C	NCBI36
NG_034210.1:g.7777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*246A>G MANE Select	ENSP00000269321.7:n.*246A>G
ENST00000269321.11:c.*246A>G	ENSP00000269321.7:n.*246A>G
ENST00000400721.8:c.*246A>G	ENSP00000383556.4:n.*246A>G
ENST00000541078.6:c.*246A>G	ENSP00000441348.2:n.*246A>G
ENST00000579121.5:c.503-46A>G	ENSP00000462960.1:n.503-46A>G
ENST00000580685.5:c.*246A>G	ENSP00000464205.1:n.*246A>G
ENST00000581876.5:c.*246A>G	ENSP00000461956.1:n.*246A>G
ENST00000582520.1:n.1A>G
ENST00000584461.5:c.503-46A>G	ENSP00000463939.1:n.503-46A>G
NM_001185077.2:c.*246A>G	NP_001172006.1:n.*246A>G
NM_001185078.2:c.*246A>G	NP_001172007.1:n.*246A>G
NM_001301240.1:c.503-46A>G	NP_001288169.1:n.503-46A>G
NM_001301241.1:c.503-46A>G	NP_001288170.1:n.503-46A>G
NM_001301242.1:c.749A>G	NP_001288171.1:p.Glu250Gly
NM_001301243.1:c.*246A>G	NP_001288172.1:n.*246A>G
NM_004309.5:c.*246A>G	NP_004300.1:n.*246A>G
NR_125441.1:n.920A>G
XM_011523574.1:c.*246A>G	XP_011521876.1:n.*246A>G
NM_004309.6:c.*246A>G MANE Select	NP_004300.1:n.*246A>G
NM_001185077.3:c.*246A>G	NP_001172006.1:n.*246A>G
NM_001185078.3:c.*246A>G	NP_001172007.1:n.*246A>G
NM_001301240.2:c.503-46A>G	NP_001288169.1:n.503-46A>G
NM_001301241.2:c.503-46A>G	NP_001288170.1:n.503-46A>G
NM_001301242.2:c.749A>G	NP_001288171.1:p.Glu250Gly
NM_001301243.2:c.*246A>G	NP_001288172.1:n.*246A>G
NR_125441.2:n.851A>G