Canonical Allele Identifier: CA707678

Gene: ARID1A

Linked Data

• dbSNP Id: rs760772339
• ExAC: 1:27105751 A / G
• gnomAD v2: 1-27105751-A-G
• gnomAD v4: 1-26779260-A-G
• MyVariant Identifiers: chr1:g.27105751A>G (hg19) ; chr1:g.26779260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779260A>G , CM000663.2:g.26779260A>G	GRCh38
NC_000001.10:g.27105751A>G , CM000663.1:g.27105751A>G	GRCh37
NC_000001.9:g.26978338A>G	NCBI36
NG_029965.1:g.88230A>G , LRG_875:g.88230A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.5362A>G MANE Select	ENSP00000320485.7:p.Ile1788Val
ENST00000374152.7:c.4213A>G	ENSP00000363267.2:p.Ile1405Val
ENST00000430799.7:c.4210A>G	ENSP00000390317.3:p.Ile1404Val
ENST00000466382.2:c.779A>G
ENST00000636219.1:c.4216A>G	ENSP00000489842.1:p.Ile1406Val
ENST00000637788.1:n.1162A>G
ENST00000324856.11:c.5362A>G	ENSP00000320485.7:p.Ile1788Val
ENST00000374152.6:c.4213A>G	ENSP00000363267.2:p.Ile1405Val
ENST00000430799.6:c.2051A>G
ENST00000457599.6:c.4711A>G	ENSP00000387636.2:p.Ile1571Val
ENST00000466382.1:c.779A>G
ENST00000532781.1:c.860A>G
NM_006015.4:c.5362A>G , LRG_875t1:c.5362A>G	NP_006006.3:p.Ile1788Val
NM_139135.2:c.4711A>G	NP_624361.1:p.Ile1571Val
NM_006015.5:c.5362A>G	NP_006006.3:p.Ile1788Val
NM_139135.3:c.4711A>G	NP_624361.1:p.Ile1571Val
NM_006015.6:c.5362A>G MANE Select	NP_006006.3:p.Ile1788Val
NM_139135.4:c.4711A>G	NP_624361.1:p.Ile1571Val