Canonical Allele Identifier: CA8843205

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 2075962
• ClinVar RCV Id: RCV002968056
• dbSNP Id: rs115573742
• ExAC: 17:79826815 G / A
• gnomAD v2: 17-79826815-G-A
• gnomAD v3: 17-81868939-G-A
• gnomAD v4: 17-81868939-G-A
• MyVariant Identifiers: chr17:g.79826815G>A (hg19) ; chr17:g.81868939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868939G>A , CM000679.2:g.81868939G>A	GRCh38
NC_000017.10:g.79826815G>A , CM000679.1:g.79826815G>A	GRCh37
NC_000017.9:g.77420104G>A	NCBI36
NG_034210.1:g.7468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.552C>T MANE Select	ENSP00000269321.7:p.Asp184=
ENST00000269321.11:c.552C>T	ENSP00000269321.7:p.Asp184=
ENST00000400721.8:c.420C>T	ENSP00000383556.4:p.Asp140=
ENST00000541078.6:c.552C>T	ENSP00000441348.2:p.Asp184=
ENST00000579121.5:c.502+50C>T	ENSP00000462960.1:n.502+50C>T
ENST00000580033.5:c.*196C>T	ENSP00000463530.1:n.*196C>T
ENST00000580685.5:c.552C>T	ENSP00000464205.1:p.Asp184=
ENST00000581876.5:c.327C>T	ENSP00000461956.1:p.Asp109=
ENST00000582984.5:n.754C>T
ENST00000583868.5:c.440C>T	ENSP00000462209.1:p.Thr147Met
ENST00000584461.5:c.502+50C>T	ENSP00000463939.1:n.502+50C>T
NM_001185077.2:c.552C>T	NP_001172006.1:p.Asp184=
NM_001185078.2:c.420C>T	NP_001172007.1:p.Asp140=
NM_001301240.1:c.502+50C>T	NP_001288169.1:n.502+50C>T
NM_001301241.1:c.502+50C>T	NP_001288170.1:n.502+50C>T
NM_001301242.1:c.440C>T	NP_001288171.1:p.Thr147Met
NM_001301243.1:c.687C>T	NP_001288172.1:p.Asp229=
NM_004309.5:c.552C>T	NP_004300.1:p.Asp184=
NR_125441.1:n.611C>T
XM_011523574.1:c.687C>T	XP_011521876.1:p.Asp229=
NM_004309.6:c.552C>T MANE Select	NP_004300.1:p.Asp184=
NM_001185077.3:c.552C>T	NP_001172006.1:p.Asp184=
NM_001185078.3:c.420C>T	NP_001172007.1:p.Asp140=
NM_001301240.2:c.502+50C>T	NP_001288169.1:n.502+50C>T
NM_001301241.2:c.502+50C>T	NP_001288170.1:n.502+50C>T
NM_001301242.2:c.440C>T	NP_001288171.1:p.Thr147Met
NM_001301243.2:c.687C>T	NP_001288172.1:p.Asp229=
NR_125441.2:n.542C>T