Canonical Allele Identifier: CA295137120

Gene: ARHGDIA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*246A>C MANE Select	ENSP00000269321.7:n.*246A>C
ENST00000269321.11:c.*246A>C	ENSP00000269321.7:n.*246A>C
ENST00000400721.8:c.*246A>C	ENSP00000383556.4:n.*246A>C
ENST00000541078.6:c.*246A>C	ENSP00000441348.2:n.*246A>C
ENST00000579121.5:c.503-46A>C	ENSP00000462960.1:n.503-46A>C
ENST00000580685.5:c.*246A>C	ENSP00000464205.1:n.*246A>C
ENST00000581876.5:c.*246A>C	ENSP00000461956.1:n.*246A>C
ENST00000582520.1:n.1A>C
ENST00000584461.5:c.503-46A>C	ENSP00000463939.1:n.503-46A>C
NM_001185077.2:c.*246A>C	NP_001172006.1:n.*246A>C
NM_001185078.2:c.*246A>C	NP_001172007.1:n.*246A>C
NM_001301240.1:c.503-46A>C	NP_001288169.1:n.503-46A>C
NM_001301241.1:c.503-46A>C	NP_001288170.1:n.503-46A>C
NM_001301242.1:c.749A>C	NP_001288171.1:p.Glu250Ala
NM_001301243.1:c.*246A>C	NP_001288172.1:n.*246A>C
NM_004309.5:c.*246A>C	NP_004300.1:n.*246A>C
NR_125441.1:n.920A>C
XM_011523574.1:c.*246A>C	XP_011521876.1:n.*246A>C
NM_004309.6:c.*246A>C MANE Select	NP_004300.1:n.*246A>C
NM_001185077.3:c.*246A>C	NP_001172006.1:n.*246A>C
NM_001185078.3:c.*246A>C	NP_001172007.1:n.*246A>C
NM_001301240.2:c.503-46A>C	NP_001288169.1:n.503-46A>C
NM_001301241.2:c.503-46A>C	NP_001288170.1:n.503-46A>C
NM_001301242.2:c.749A>C	NP_001288171.1:p.Glu250Ala
NM_001301243.2:c.*246A>C	NP_001288172.1:n.*246A>C
NR_125441.2:n.851A>C