Canonical Allele Identifier: CA2640521494

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868601-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868601G>C , CM000679.2:g.81868601G>C	GRCh38
NC_000017.10:g.79826477G>C , CM000679.1:g.79826477G>C	GRCh37
NC_000017.9:g.77419766G>C	NCBI36
NG_034210.1:g.7806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*275C>G MANE Select	ENSP00000269321.7:n.*275C>G
ENST00000269321.11:c.*275C>G	ENSP00000269321.7:n.*275C>G
ENST00000400721.8:c.*275C>G	ENSP00000383556.4:n.*275C>G
ENST00000541078.6:c.*275C>G	ENSP00000441348.2:n.*275C>G
ENST00000579121.5:c.503-17C>G	ENSP00000462960.1:n.503-17C>G
ENST00000580685.5:c.*275C>G	ENSP00000464205.1:n.*275C>G
ENST00000582520.1:n.30C>G
ENST00000584461.5:c.503-17C>G	ENSP00000463939.1:n.503-17C>G
NM_001185077.2:c.*275C>G	NP_001172006.1:n.*275C>G
NM_001185078.2:c.*275C>G	NP_001172007.1:n.*275C>G
NM_001301240.1:c.503-17C>G	NP_001288169.1:n.503-17C>G
NM_001301241.1:c.503-17C>G	NP_001288170.1:n.503-17C>G
NM_001301242.1:c.778C>G	NP_001288171.1:p.Leu260Val
NM_001301243.1:c.*275C>G	NP_001288172.1:n.*275C>G
NM_004309.5:c.*275C>G	NP_004300.1:n.*275C>G
NR_125441.1:n.949C>G
XM_011523574.1:c.*275C>G	XP_011521876.1:n.*275C>G
NM_004309.6:c.*275C>G MANE Select	NP_004300.1:n.*275C>G
NM_001185077.3:c.*275C>G	NP_001172006.1:n.*275C>G
NM_001185078.3:c.*275C>G	NP_001172007.1:n.*275C>G
NM_001301240.2:c.503-17C>G	NP_001288169.1:n.503-17C>G
NM_001301241.2:c.503-17C>G	NP_001288170.1:n.503-17C>G
NM_001301242.2:c.778C>G	NP_001288171.1:p.Leu260Val
NM_001301243.2:c.*275C>G	NP_001288172.1:n.*275C>G
NR_125441.2:n.880C>G