Canonical Allele Identifier: CA401521602

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868575-G-C
• MyVariant Identifiers: chr17:g.79826451G>C (hg19) ; chr17:g.81868575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868575G>C , CM000679.2:g.81868575G>C	GRCh38
NC_000017.10:g.79826451G>C , CM000679.1:g.79826451G>C	GRCh37
NC_000017.9:g.77419740G>C	NCBI36
NG_034210.1:g.7832C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*301C>G MANE Select	ENSP00000269321.7:n.*301C>G
ENST00000269321.11:c.*301C>G	ENSP00000269321.7:n.*301C>G
ENST00000400721.8:c.*301C>G	ENSP00000383556.4:n.*301C>G
ENST00000541078.6:c.*301C>G	ENSP00000441348.2:n.*301C>G
ENST00000579121.5:c.512C>G	ENSP00000462960.1:p.Ser171Cys
ENST00000580685.5:c.*301C>G	ENSP00000464205.1:n.*301C>G
ENST00000582520.1:n.46+10C>G
ENST00000584461.5:c.512C>G	ENSP00000463939.1:p.Ser171Cys
NM_001185077.2:c.*301C>G	NP_001172006.1:n.*301C>G
NM_001185078.2:c.*301C>G	NP_001172007.1:n.*301C>G
NM_001301240.1:c.512C>G	NP_001288169.1:p.Ser171Cys
NM_001301241.1:c.512C>G	NP_001288170.1:p.Ser171Cys
NM_001301242.1:c.804C>G	NP_001288171.1:p.Leu268=
NM_001301243.1:c.*301C>G	NP_001288172.1:n.*301C>G
NM_004309.5:c.*301C>G	NP_004300.1:n.*301C>G
NR_125441.1:n.975C>G
XM_011523574.1:c.*301C>G	XP_011521876.1:n.*301C>G
NM_004309.6:c.*301C>G MANE Select	NP_004300.1:n.*301C>G
NM_001185077.3:c.*301C>G	NP_001172006.1:n.*301C>G
NM_001185078.3:c.*301C>G	NP_001172007.1:n.*301C>G
NM_001301240.2:c.512C>G	NP_001288169.1:p.Ser171Cys
NM_001301241.2:c.512C>G	NP_001288170.1:p.Ser171Cys
NM_001301242.2:c.804C>G	NP_001288171.1:p.Leu268=
NM_001301243.2:c.*301C>G	NP_001288172.1:n.*301C>G
NR_125441.2:n.906C>G