Canonical Allele Identifier: CA401523297

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868896-T-G
• MyVariant Identifiers: chr17:g.79826772T>G (hg19) ; chr17:g.81868896T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868896T>G , CM000679.2:g.81868896T>G	GRCh38
NC_000017.10:g.79826772T>G , CM000679.1:g.79826772T>G	GRCh37
NC_000017.9:g.77420061T>G	NCBI36
NG_034210.1:g.7511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.595A>C MANE Select	ENSP00000269321.7:p.Lys199Gln
ENST00000269321.11:c.595A>C	ENSP00000269321.7:p.Lys199Gln
ENST00000400721.8:c.463A>C	ENSP00000383556.4:p.Lys155Gln
ENST00000541078.6:c.595A>C	ENSP00000441348.2:p.Lys199Gln
ENST00000579121.5:c.502+93A>C	ENSP00000462960.1:n.502+93A>C
ENST00000580685.5:c.595A>C	ENSP00000464205.1:p.Lys199Gln
ENST00000581876.5:c.370A>C	ENSP00000461956.1:p.Lys124Gln
ENST00000582984.5:n.797A>C
ENST00000583868.5:c.483A>C	ENSP00000462209.1:p.Ser161=
ENST00000584461.5:c.502+93A>C	ENSP00000463939.1:n.502+93A>C
NM_001185077.2:c.595A>C	NP_001172006.1:p.Lys199Gln
NM_001185078.2:c.463A>C	NP_001172007.1:p.Lys155Gln
NM_001301240.1:c.502+93A>C	NP_001288169.1:n.502+93A>C
NM_001301241.1:c.502+93A>C	NP_001288170.1:n.502+93A>C
NM_001301242.1:c.483A>C	NP_001288171.1:p.Ser161=
NM_001301243.1:c.730A>C	NP_001288172.1:p.Lys244Gln
NM_004309.5:c.595A>C	NP_004300.1:p.Lys199Gln
NR_125441.1:n.654A>C
XM_011523574.1:c.730A>C	XP_011521876.1:p.Lys244Gln
NM_004309.6:c.595A>C MANE Select	NP_004300.1:p.Lys199Gln
NM_001185077.3:c.595A>C	NP_001172006.1:p.Lys199Gln
NM_001185078.3:c.463A>C	NP_001172007.1:p.Lys155Gln
NM_001301240.2:c.502+93A>C	NP_001288169.1:n.502+93A>C
NM_001301241.2:c.502+93A>C	NP_001288170.1:n.502+93A>C
NM_001301242.2:c.483A>C	NP_001288171.1:p.Ser161=
NM_001301243.2:c.730A>C	NP_001288172.1:p.Lys244Gln
NR_125441.2:n.585A>C