Canonical Allele Identifier: CA401523545

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868929-C-T
• MyVariant Identifiers: chr17:g.79826805C>T (hg19) ; chr17:g.81868929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868929C>T , CM000679.2:g.81868929C>T	GRCh38
NC_000017.10:g.79826805C>T , CM000679.1:g.79826805C>T	GRCh37
NC_000017.9:g.77420094C>T	NCBI36
NG_034210.1:g.7478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.562G>A MANE Select	ENSP00000269321.7:p.Asp188Asn
ENST00000269321.11:c.562G>A	ENSP00000269321.7:p.Asp188Asn
ENST00000400721.8:c.430G>A	ENSP00000383556.4:p.Asp144Asn
ENST00000541078.6:c.562G>A	ENSP00000441348.2:p.Asp188Asn
ENST00000579121.5:c.502+60G>A	ENSP00000462960.1:n.502+60G>A
ENST00000580033.5:c.*206G>A	ENSP00000463530.1:n.*206G>A
ENST00000580685.5:c.562G>A	ENSP00000464205.1:p.Asp188Asn
ENST00000581876.5:c.337G>A	ENSP00000461956.1:p.Asp113Asn
ENST00000582984.5:n.764G>A
ENST00000583868.5:c.450G>A	ENSP00000462209.1:p.Pro150=
ENST00000584461.5:c.502+60G>A	ENSP00000463939.1:n.502+60G>A
NM_001185077.2:c.562G>A	NP_001172006.1:p.Asp188Asn
NM_001185078.2:c.430G>A	NP_001172007.1:p.Asp144Asn
NM_001301240.1:c.502+60G>A	NP_001288169.1:n.502+60G>A
NM_001301241.1:c.502+60G>A	NP_001288170.1:n.502+60G>A
NM_001301242.1:c.450G>A	NP_001288171.1:p.Pro150=
NM_001301243.1:c.697G>A	NP_001288172.1:p.Asp233Asn
NM_004309.5:c.562G>A	NP_004300.1:p.Asp188Asn
NR_125441.1:n.621G>A
XM_011523574.1:c.697G>A	XP_011521876.1:p.Asp233Asn
NM_004309.6:c.562G>A MANE Select	NP_004300.1:p.Asp188Asn
NM_001185077.3:c.562G>A	NP_001172006.1:p.Asp188Asn
NM_001185078.3:c.430G>A	NP_001172007.1:p.Asp144Asn
NM_001301240.2:c.502+60G>A	NP_001288169.1:n.502+60G>A
NM_001301241.2:c.502+60G>A	NP_001288170.1:n.502+60G>A
NM_001301242.2:c.450G>A	NP_001288171.1:p.Pro150=
NM_001301243.2:c.697G>A	NP_001288172.1:p.Asp233Asn
NR_125441.2:n.552G>A