Canonical Allele Identifier: CA339265122
Gene: ARID1A HGNC NCBI

Linked Data

dbSNP Id: rs1370059067
gnomAD v2: 1-27023305-C-G
gnomAD v3: 1-26696814-C-G
gnomAD v4: 1-26696814-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696814C>G , CM000663.2:g.26696814C>G GRCh38
NC_000001.10:g.27023305C>G , CM000663.1:g.27023305C>G GRCh37
NC_000001.9:g.26895892C>G NCBI36
NG_029965.1:g.5784C>G , LRG_875:g.5784C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.411C>G MANE Select ENSP00000320485.7:p.His137Gln
ENST00000430799.7:c.-13+3197C>G ENSP00000390317.3:n.-13+3197C>G
ENST00000637465.1:c.-13+714C>G ENSP00000490650.1:n.-13+714C>G
ENST00000324856.11:c.411C>G ENSP00000320485.7:p.His137Gln
ENST00000457599.6:c.411C>G ENSP00000387636.2:p.His137Gln
NM_006015.4:c.411C>G , LRG_875t1:c.411C>G NP_006006.3:p.His137Gln
NM_139135.2:c.411C>G NP_624361.1:p.His137Gln
NM_006015.5:c.411C>G NP_006006.3:p.His137Gln
NM_139135.3:c.411C>G NP_624361.1:p.His137Gln
NM_006015.6:c.411C>G MANE Select NP_006006.3:p.His137Gln
NM_139135.4:c.411C>G NP_624361.1:p.His137Gln