Canonical Allele Identifier: CA339184425
Gene: ARID1A HGNC NCBI

Linked Data

dbSNP Id: rs1279351877
gnomAD v2: 1-27105642-C-G
gnomAD v4: 1-26779151-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26779151C>G , CM000663.2:g.26779151C>G GRCh38
NC_000001.10:g.27105642C>G , CM000663.1:g.27105642C>G GRCh37
NC_000001.9:g.26978229C>G NCBI36
NG_029965.1:g.88121C>G , LRG_875:g.88121C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324856.13:c.5253C>G MANE Select ENSP00000320485.7:p.Ser1751Arg
ENST00000374152.7:c.4104C>G ENSP00000363267.2:p.Ser1368Arg
ENST00000430799.7:c.4101C>G ENSP00000390317.3:p.Ser1367Arg
ENST00000466382.2:c.670C>G
ENST00000636219.1:c.4107C>G ENSP00000489842.1:p.Ser1369Arg
ENST00000637788.1:n.1053C>G
ENST00000324856.11:c.5253C>G ENSP00000320485.7:p.Ser1751Arg
ENST00000374152.6:c.4104C>G ENSP00000363267.2:p.Ser1368Arg
ENST00000430799.6:c.1942C>G
ENST00000457599.6:c.4602C>G ENSP00000387636.2:p.Ser1534Arg
ENST00000466382.1:c.670C>G
ENST00000532781.1:c.751C>G
NM_006015.4:c.5253C>G , LRG_875t1:c.5253C>G NP_006006.3:p.Ser1751Arg
NM_139135.2:c.4602C>G NP_624361.1:p.Ser1534Arg
NM_006015.5:c.5253C>G NP_006006.3:p.Ser1751Arg
NM_139135.3:c.4602C>G NP_624361.1:p.Ser1534Arg
NM_006015.6:c.5253C>G MANE Select NP_006006.3:p.Ser1751Arg
NM_139135.4:c.4602C>G NP_624361.1:p.Ser1534Arg