Canonical Allele Identifier: CA8843228

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs764078219
• ExAC: 17:79826921 T / C
• gnomAD v2: 17-79826921-T-C
• MyVariant Identifiers: chr17:g.79826921T>C (hg19) ; chr17:g.81869045T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869045T>C , CM000679.2:g.81869045T>C	GRCh38
NC_000017.10:g.79826921T>C , CM000679.1:g.79826921T>C	GRCh37
NC_000017.9:g.77420210T>C	NCBI36
NG_034210.1:g.7362A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.446A>G MANE Select	ENSP00000269321.7:p.Tyr149Cys
ENST00000269321.11:c.446A>G	ENSP00000269321.7:p.Tyr149Cys
ENST00000400721.8:c.416-102A>G	ENSP00000383556.4:n.416-102A>G
ENST00000541078.6:c.446A>G	ENSP00000441348.2:p.Tyr149Cys
ENST00000579121.5:c.446A>G	ENSP00000462960.1:p.Tyr149Cys
ENST00000580033.5:c.*90A>G	ENSP00000463530.1:n.*90A>G
ENST00000580685.5:c.446A>G	ENSP00000464205.1:p.Tyr149Cys
ENST00000581876.5:c.221A>G	ENSP00000461956.1:p.Tyr74Cys
ENST00000582984.5:n.648A>G
ENST00000583791.1:n.310A>G
ENST00000583868.5:c.435+11A>G	ENSP00000462209.1:n.435+11A>G
ENST00000584461.5:c.446A>G	ENSP00000463939.1:p.Tyr149Cys
NM_001185077.2:c.446A>G	NP_001172006.1:p.Tyr149Cys
NM_001185078.2:c.416-102A>G	NP_001172007.1:n.416-102A>G
NM_001301240.1:c.446A>G	NP_001288169.1:p.Tyr149Cys
NM_001301241.1:c.446A>G	NP_001288170.1:p.Tyr149Cys
NM_001301242.1:c.435+11A>G	NP_001288171.1:n.435+11A>G
NM_001301243.1:c.581A>G	NP_001288172.1:p.Tyr194Cys
NM_004309.5:c.446A>G	NP_004300.1:p.Tyr149Cys
NR_125441.1:n.505A>G
XM_011523574.1:c.581A>G	XP_011521876.1:p.Tyr194Cys
NM_004309.6:c.446A>G MANE Select	NP_004300.1:p.Tyr149Cys
NM_001185077.3:c.446A>G	NP_001172006.1:p.Tyr149Cys
NM_001185078.3:c.416-102A>G	NP_001172007.1:n.416-102A>G
NM_001301240.2:c.446A>G	NP_001288169.1:p.Tyr149Cys
NM_001301241.2:c.446A>G	NP_001288170.1:p.Tyr149Cys
NM_001301242.2:c.435+11A>G	NP_001288171.1:n.435+11A>G
NM_001301243.2:c.581A>G	NP_001288172.1:p.Tyr194Cys
NR_125441.2:n.436A>G