Canonical Allele Identifier: CA401524071

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs2039174367
• gnomAD v4: 17-81869068-C-G
• MyVariant Identifiers: chr17:g.79826944C>G (hg19) ; chr17:g.81869068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869068C>G , CM000679.2:g.81869068C>G	GRCh38
NC_000017.10:g.79826944C>G , CM000679.1:g.79826944C>G	GRCh37
NC_000017.9:g.77420233C>G	NCBI36
NG_034210.1:g.7339G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.423G>C MANE Select	ENSP00000269321.7:p.Lys141Asn
ENST00000269321.11:c.423G>C	ENSP00000269321.7:p.Lys141Asn
ENST00000400721.8:c.415+105G>C	ENSP00000383556.4:n.415+105G>C
ENST00000541078.6:c.423G>C	ENSP00000441348.2:p.Lys141Asn
ENST00000578351.1:c.*67G>C	ENSP00000462323.1:n.*67G>C
ENST00000579121.5:c.423G>C	ENSP00000462960.1:p.Lys141Asn
ENST00000580033.5:c.*67G>C	ENSP00000463530.1:n.*67G>C
ENST00000580685.5:c.423G>C	ENSP00000464205.1:p.Lys141Asn
ENST00000581876.5:c.198G>C	ENSP00000461956.1:p.Lys66Asn
ENST00000582984.5:n.625G>C
ENST00000583791.1:n.287G>C
ENST00000583868.5:c.423G>C	ENSP00000462209.1:p.Lys141Asn
ENST00000584461.5:c.423G>C	ENSP00000463939.1:p.Lys141Asn
NM_001185077.2:c.423G>C	NP_001172006.1:p.Lys141Asn
NM_001185078.2:c.415+105G>C	NP_001172007.1:n.415+105G>C
NM_001301240.1:c.423G>C	NP_001288169.1:p.Lys141Asn
NM_001301241.1:c.423G>C	NP_001288170.1:p.Lys141Asn
NM_001301242.1:c.423G>C	NP_001288171.1:p.Lys141Asn
NM_001301243.1:c.558G>C	NP_001288172.1:p.Lys186Asn
NM_004309.5:c.423G>C	NP_004300.1:p.Lys141Asn
NR_125441.1:n.482G>C
XM_011523574.1:c.558G>C	XP_011521876.1:p.Lys186Asn
NM_004309.6:c.423G>C MANE Select	NP_004300.1:p.Lys141Asn
NM_001185077.3:c.423G>C	NP_001172006.1:p.Lys141Asn
NM_001185078.3:c.415+105G>C	NP_001172007.1:n.415+105G>C
NM_001301240.2:c.423G>C	NP_001288169.1:p.Lys141Asn
NM_001301241.2:c.423G>C	NP_001288170.1:p.Lys141Asn
NM_001301242.2:c.423G>C	NP_001288171.1:p.Lys141Asn
NM_001301243.2:c.558G>C	NP_001288172.1:p.Lys186Asn
NR_125441.2:n.413G>C