Canonical Allele Identifier: CA295137199

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs530110406
• gnomAD v2: 17-79826567-G-C
• gnomAD v4: 17-81868691-G-C
• MyVariant Identifiers: chr17:g.79826567G>C (hg19) ; chr17:g.81868691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868691G>C , CM000679.2:g.81868691G>C	GRCh38
NC_000017.10:g.79826567G>C , CM000679.1:g.79826567G>C	GRCh37
NC_000017.9:g.77419856G>C	NCBI36
NG_034210.1:g.7716C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*185C>G MANE Select	ENSP00000269321.7:n.*185C>G
ENST00000269321.11:c.*185C>G	ENSP00000269321.7:n.*185C>G
ENST00000400721.8:c.*185C>G	ENSP00000383556.4:n.*185C>G
ENST00000541078.6:c.*185C>G	ENSP00000441348.2:n.*185C>G
ENST00000579121.5:c.503-107C>G	ENSP00000462960.1:n.503-107C>G
ENST00000580685.5:c.*185C>G	ENSP00000464205.1:n.*185C>G
ENST00000581876.5:c.*185C>G	ENSP00000461956.1:n.*185C>G
ENST00000583868.5:c.688C>G	ENSP00000462209.1:p.Pro230Ala
ENST00000584461.5:c.503-107C>G	ENSP00000463939.1:n.503-107C>G
NM_001185077.2:c.*185C>G	NP_001172006.1:n.*185C>G
NM_001185078.2:c.*185C>G	NP_001172007.1:n.*185C>G
NM_001301240.1:c.503-107C>G	NP_001288169.1:n.503-107C>G
NM_001301241.1:c.503-107C>G	NP_001288170.1:n.503-107C>G
NM_001301242.1:c.688C>G	NP_001288171.1:p.Pro230Ala
NM_001301243.1:c.*185C>G	NP_001288172.1:n.*185C>G
NM_004309.5:c.*185C>G	NP_004300.1:n.*185C>G
NR_125441.1:n.859C>G
XM_011523574.1:c.*185C>G	XP_011521876.1:n.*185C>G
NM_004309.6:c.*185C>G MANE Select	NP_004300.1:n.*185C>G
NM_001185077.3:c.*185C>G	NP_001172006.1:n.*185C>G
NM_001185078.3:c.*185C>G	NP_001172007.1:n.*185C>G
NM_001301240.2:c.503-107C>G	NP_001288169.1:n.503-107C>G
NM_001301241.2:c.503-107C>G	NP_001288170.1:n.503-107C>G
NM_001301242.2:c.688C>G	NP_001288171.1:p.Pro230Ala
NM_001301243.2:c.*185C>G	NP_001288172.1:n.*185C>G
NR_125441.2:n.790C>G