Canonical Allele Identifier: CA401523462

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868919-G-C
• MyVariant Identifiers: chr17:g.79826795G>C (hg19) ; chr17:g.81868919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868919G>C , CM000679.2:g.81868919G>C	GRCh38
NC_000017.10:g.79826795G>C , CM000679.1:g.79826795G>C	GRCh37
NC_000017.9:g.77420084G>C	NCBI36
NG_034210.1:g.7488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.572C>G MANE Select	ENSP00000269321.7:p.Ser191Cys
ENST00000269321.11:c.572C>G	ENSP00000269321.7:p.Ser191Cys
ENST00000400721.8:c.440C>G	ENSP00000383556.4:p.Ser147Cys
ENST00000541078.6:c.572C>G	ENSP00000441348.2:p.Ser191Cys
ENST00000579121.5:c.502+70C>G	ENSP00000462960.1:n.502+70C>G
ENST00000580685.5:c.572C>G	ENSP00000464205.1:p.Ser191Cys
ENST00000581876.5:c.347C>G	ENSP00000461956.1:p.Ser116Cys
ENST00000582984.5:n.774C>G
ENST00000583868.5:c.460C>G	ENSP00000462209.1:p.Pro154Ala
ENST00000584461.5:c.502+70C>G	ENSP00000463939.1:n.502+70C>G
NM_001185077.2:c.572C>G	NP_001172006.1:p.Ser191Cys
NM_001185078.2:c.440C>G	NP_001172007.1:p.Ser147Cys
NM_001301240.1:c.502+70C>G	NP_001288169.1:n.502+70C>G
NM_001301241.1:c.502+70C>G	NP_001288170.1:n.502+70C>G
NM_001301242.1:c.460C>G	NP_001288171.1:p.Pro154Ala
NM_001301243.1:c.707C>G	NP_001288172.1:p.Ser236Cys
NM_004309.5:c.572C>G	NP_004300.1:p.Ser191Cys
NR_125441.1:n.631C>G
XM_011523574.1:c.707C>G	XP_011521876.1:p.Ser236Cys
NM_004309.6:c.572C>G MANE Select	NP_004300.1:p.Ser191Cys
NM_001185077.3:c.572C>G	NP_001172006.1:p.Ser191Cys
NM_001185078.3:c.440C>G	NP_001172007.1:p.Ser147Cys
NM_001301240.2:c.502+70C>G	NP_001288169.1:n.502+70C>G
NM_001301241.2:c.502+70C>G	NP_001288170.1:n.502+70C>G
NM_001301242.2:c.460C>G	NP_001288171.1:p.Pro154Ala
NM_001301243.2:c.707C>G	NP_001288172.1:p.Ser236Cys
NR_125441.2:n.562C>G