Canonical Allele Identifier: CA401523438

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868916-C-A
• MyVariant Identifiers: chr17:g.79826792C>A (hg19) ; chr17:g.81868916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868916C>A , CM000679.2:g.81868916C>A	GRCh38
NC_000017.10:g.79826792C>A , CM000679.1:g.79826792C>A	GRCh37
NC_000017.9:g.77420081C>A	NCBI36
NG_034210.1:g.7491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.575G>T MANE Select	ENSP00000269321.7:p.Trp192Leu
ENST00000269321.11:c.575G>T	ENSP00000269321.7:p.Trp192Leu
ENST00000400721.8:c.443G>T	ENSP00000383556.4:p.Trp148Leu
ENST00000541078.6:c.575G>T	ENSP00000441348.2:p.Trp192Leu
ENST00000579121.5:c.502+73G>T	ENSP00000462960.1:n.502+73G>T
ENST00000580685.5:c.575G>T	ENSP00000464205.1:p.Trp192Leu
ENST00000581876.5:c.350G>T	ENSP00000461956.1:p.Trp117Leu
ENST00000582984.5:n.777G>T
ENST00000583868.5:c.463G>T	ENSP00000462209.1:p.Gly155Trp
ENST00000584461.5:c.502+73G>T	ENSP00000463939.1:n.502+73G>T
NM_001185077.2:c.575G>T	NP_001172006.1:p.Trp192Leu
NM_001185078.2:c.443G>T	NP_001172007.1:p.Trp148Leu
NM_001301240.1:c.502+73G>T	NP_001288169.1:n.502+73G>T
NM_001301241.1:c.502+73G>T	NP_001288170.1:n.502+73G>T
NM_001301242.1:c.463G>T	NP_001288171.1:p.Gly155Trp
NM_001301243.1:c.710G>T	NP_001288172.1:p.Trp237Leu
NM_004309.5:c.575G>T	NP_004300.1:p.Trp192Leu
NR_125441.1:n.634G>T
XM_011523574.1:c.710G>T	XP_011521876.1:p.Trp237Leu
NM_004309.6:c.575G>T MANE Select	NP_004300.1:p.Trp192Leu
NM_001185077.3:c.575G>T	NP_001172006.1:p.Trp192Leu
NM_001185078.3:c.443G>T	NP_001172007.1:p.Trp148Leu
NM_001301240.2:c.502+73G>T	NP_001288169.1:n.502+73G>T
NM_001301241.2:c.502+73G>T	NP_001288170.1:n.502+73G>T
NM_001301242.2:c.463G>T	NP_001288171.1:p.Gly155Trp
NM_001301243.2:c.710G>T	NP_001288172.1:p.Trp237Leu
NR_125441.2:n.565G>T