Canonical Allele Identifier: CA19640517
Gene: ARID1A HGNC NCBI

Linked Data

dbSNP Id: rs1052078392
gnomAD v3: 1-26696690-C-T
gnomAD v4: 1-26696690-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696690C>T , CM000663.2:g.26696690C>T GRCh38
NC_000001.10:g.27023181C>T , CM000663.1:g.27023181C>T GRCh37
NC_000001.9:g.26895768C>T NCBI36
NG_029965.1:g.5660C>T , LRG_875:g.5660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.287C>T MANE Select ENSP00000320485.7:p.Ala96Val
ENST00000430799.7:c.-13+3073C>T ENSP00000390317.3:n.-13+3073C>T
ENST00000637465.1:c.-13+590C>T ENSP00000490650.1:n.-13+590C>T
ENST00000324856.11:c.287C>T ENSP00000320485.7:p.Ala96Val
ENST00000457599.6:c.287C>T ENSP00000387636.2:p.Ala96Val
NM_006015.4:c.287C>T , LRG_875t1:c.287C>T NP_006006.3:p.Ala96Val
NM_139135.2:c.287C>T NP_624361.1:p.Ala96Val
NM_006015.5:c.287C>T NP_006006.3:p.Ala96Val
NM_139135.3:c.287C>T NP_624361.1:p.Ala96Val
NM_006015.6:c.287C>T MANE Select NP_006006.3:p.Ala96Val
NM_139135.4:c.287C>T NP_624361.1:p.Ala96Val