Canonical Allele Identifier: CA339264540

Gene: ARID1A

Linked Data

• dbSNP Id: rs1034809221
• gnomAD v4: 1-26696570-A-G
• MyVariant Identifiers: chr1:g.27023061A>G (hg19) ; chr1:g.26696570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696570A>G , CM000663.2:g.26696570A>G	GRCh38
NC_000001.10:g.27023061A>G , CM000663.1:g.27023061A>G	GRCh37
NC_000001.9:g.26895648A>G	NCBI36
NG_029965.1:g.5540A>G , LRG_875:g.5540A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.167A>G MANE Select	ENSP00000320485.7:p.Gln56Arg
ENST00000430799.7:c.-13+2953A>G	ENSP00000390317.3:n.-13+2953A>G
ENST00000637465.1:c.-13+470A>G	ENSP00000490650.1:n.-13+470A>G
ENST00000324856.11:c.167A>G	ENSP00000320485.7:p.Gln56Arg
ENST00000457599.6:c.167A>G	ENSP00000387636.2:p.Gln56Arg
NM_006015.4:c.167A>G , LRG_875t1:c.167A>G	NP_006006.3:p.Gln56Arg
NM_139135.2:c.167A>G	NP_624361.1:p.Gln56Arg
NM_006015.5:c.167A>G	NP_006006.3:p.Gln56Arg
NM_139135.3:c.167A>G	NP_624361.1:p.Gln56Arg
NM_006015.6:c.167A>G MANE Select	NP_006006.3:p.Gln56Arg
NM_139135.4:c.167A>G	NP_624361.1:p.Gln56Arg