Canonical Allele Identifier: CA401521645

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868581-G-T
• MyVariant Identifiers: chr17:g.79826457G>T (hg19) ; chr17:g.81868581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868581G>T , CM000679.2:g.81868581G>T	GRCh38
NC_000017.10:g.79826457G>T , CM000679.1:g.79826457G>T	GRCh37
NC_000017.9:g.77419746G>T	NCBI36
NG_034210.1:g.7826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*295C>A MANE Select	ENSP00000269321.7:n.*295C>A
ENST00000269321.11:c.*295C>A	ENSP00000269321.7:n.*295C>A
ENST00000400721.8:c.*295C>A	ENSP00000383556.4:n.*295C>A
ENST00000541078.6:c.*295C>A	ENSP00000441348.2:n.*295C>A
ENST00000579121.5:c.506C>A	ENSP00000462960.1:p.Ser169Tyr
ENST00000580685.5:c.*295C>A	ENSP00000464205.1:n.*295C>A
ENST00000582520.1:n.46+4C>A
ENST00000584461.5:c.506C>A	ENSP00000463939.1:p.Ser169Tyr
NM_001185077.2:c.*295C>A	NP_001172006.1:n.*295C>A
NM_001185078.2:c.*295C>A	NP_001172007.1:n.*295C>A
NM_001301240.1:c.506C>A	NP_001288169.1:p.Ser169Tyr
NM_001301241.1:c.506C>A	NP_001288170.1:p.Ser169Tyr
NM_001301242.1:c.798C>A	NP_001288171.1:p.Phe266Leu
NM_001301243.1:c.*295C>A	NP_001288172.1:n.*295C>A
NM_004309.5:c.*295C>A	NP_004300.1:n.*295C>A
NR_125441.1:n.969C>A
XM_011523574.1:c.*295C>A	XP_011521876.1:n.*295C>A
NM_004309.6:c.*295C>A MANE Select	NP_004300.1:n.*295C>A
NM_001185077.3:c.*295C>A	NP_001172006.1:n.*295C>A
NM_001185078.3:c.*295C>A	NP_001172007.1:n.*295C>A
NM_001301240.2:c.506C>A	NP_001288169.1:p.Ser169Tyr
NM_001301241.2:c.506C>A	NP_001288170.1:p.Ser169Tyr
NM_001301242.2:c.798C>A	NP_001288171.1:p.Phe266Leu
NM_001301243.2:c.*295C>A	NP_001288172.1:n.*295C>A
NR_125441.2:n.900C>A