Canonical Allele Identifier: CA8843202

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs772758106
• ExAC: 17:79826805 C / A
• gnomAD v2: 17-79826805-C-A
• gnomAD v4: 17-81868929-C-A
• MyVariant Identifiers: chr17:g.79826805C>A (hg19) ; chr17:g.81868929C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.562G>T MANE Select	ENSP00000269321.7:p.Asp188Tyr
ENST00000269321.11:c.562G>T	ENSP00000269321.7:p.Asp188Tyr
ENST00000400721.8:c.430G>T	ENSP00000383556.4:p.Asp144Tyr
ENST00000541078.6:c.562G>T	ENSP00000441348.2:p.Asp188Tyr
ENST00000579121.5:c.502+60G>T	ENSP00000462960.1:n.502+60G>T
ENST00000580033.5:c.*206G>T	ENSP00000463530.1:n.*206G>T
ENST00000580685.5:c.562G>T	ENSP00000464205.1:p.Asp188Tyr
ENST00000581876.5:c.337G>T	ENSP00000461956.1:p.Asp113Tyr
ENST00000582984.5:n.764G>T
ENST00000583868.5:c.450G>T	ENSP00000462209.1:p.Pro150=
ENST00000584461.5:c.502+60G>T	ENSP00000463939.1:n.502+60G>T
NM_001185077.2:c.562G>T	NP_001172006.1:p.Asp188Tyr
NM_001185078.2:c.430G>T	NP_001172007.1:p.Asp144Tyr
NM_001301240.1:c.502+60G>T	NP_001288169.1:n.502+60G>T
NM_001301241.1:c.502+60G>T	NP_001288170.1:n.502+60G>T
NM_001301242.1:c.450G>T	NP_001288171.1:p.Pro150=
NM_001301243.1:c.697G>T	NP_001288172.1:p.Asp233Tyr
NM_004309.5:c.562G>T	NP_004300.1:p.Asp188Tyr
NR_125441.1:n.621G>T
XM_011523574.1:c.697G>T	XP_011521876.1:p.Asp233Tyr
NM_004309.6:c.562G>T MANE Select	NP_004300.1:p.Asp188Tyr
NM_001185077.3:c.562G>T	NP_001172006.1:p.Asp188Tyr
NM_001185078.3:c.430G>T	NP_001172007.1:p.Asp144Tyr
NM_001301240.2:c.502+60G>T	NP_001288169.1:n.502+60G>T
NM_001301241.2:c.502+60G>T	NP_001288170.1:n.502+60G>T
NM_001301242.2:c.450G>T	NP_001288171.1:p.Pro150=
NM_001301243.2:c.697G>T	NP_001288172.1:p.Asp233Tyr
NR_125441.2:n.552G>T