Canonical Allele Identifier: CA401523146

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs2039161780
• gnomAD v3: 17-81868877-C-T
• gnomAD v4: 17-81868877-C-T
• COSMIC: COSM6281325
• MyVariant Identifiers: chr17:g.79826753C>T (hg19) ; chr17:g.81868877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868877C>T , CM000679.2:g.81868877C>T	GRCh38
NC_000017.10:g.79826753C>T , CM000679.1:g.79826753C>T	GRCh37
NC_000017.9:g.77420042C>T	NCBI36
NG_034210.1:g.7530G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.614G>A MANE Select	ENSP00000269321.7:p.Ter205=
ENST00000269321.11:c.614G>A	ENSP00000269321.7:p.Ter205=
ENST00000400721.8:c.482G>A	ENSP00000383556.4:p.Ter161=
ENST00000541078.6:c.614G>A	ENSP00000441348.2:p.Ter205=
ENST00000579121.5:c.502+112G>A	ENSP00000462960.1:n.502+112G>A
ENST00000580685.5:c.614G>A	ENSP00000464205.1:p.Ter205=
ENST00000581876.5:c.389G>A	ENSP00000461956.1:p.Ter130=
ENST00000582984.5:n.816G>A
ENST00000583868.5:c.502G>A	ENSP00000462209.1:p.Glu168Lys
ENST00000584461.5:c.502+112G>A	ENSP00000463939.1:n.502+112G>A
NM_001185077.2:c.614G>A	NP_001172006.1:p.Ter205=
NM_001185078.2:c.482G>A	NP_001172007.1:p.Ter161=
NM_001301240.1:c.502+112G>A	NP_001288169.1:n.502+112G>A
NM_001301241.1:c.502+112G>A	NP_001288170.1:n.502+112G>A
NM_001301242.1:c.502G>A	NP_001288171.1:p.Glu168Lys
NM_001301243.1:c.749G>A	NP_001288172.1:p.Ter250=
NM_004309.5:c.614G>A	NP_004300.1:p.Ter205=
NR_125441.1:n.673G>A
XM_011523574.1:c.749G>A	XP_011521876.1:p.Ter250=
NM_004309.6:c.614G>A MANE Select	NP_004300.1:p.Ter205=
NM_001185077.3:c.614G>A	NP_001172006.1:p.Ter205=
NM_001185078.3:c.482G>A	NP_001172007.1:p.Ter161=
NM_001301240.2:c.502+112G>A	NP_001288169.1:n.502+112G>A
NM_001301241.2:c.502+112G>A	NP_001288170.1:n.502+112G>A
NM_001301242.2:c.502G>A	NP_001288171.1:p.Glu168Lys
NM_001301243.2:c.749G>A	NP_001288172.1:p.Ter250=
NR_125441.2:n.604G>A