Canonical Allele Identifier: CA339264809
Gene: ARID1A HGNC NCBI

Linked Data

dbSNP Id: rs1388017467
gnomAD v2: 1-27023187-C-T
gnomAD v3: 1-26696696-C-T
gnomAD v4: 1-26696696-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696696C>T , CM000663.2:g.26696696C>T GRCh38
NC_000001.10:g.27023187C>T , CM000663.1:g.27023187C>T GRCh37
NC_000001.9:g.26895774C>T NCBI36
NG_029965.1:g.5666C>T , LRG_875:g.5666C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.293C>T MANE Select ENSP00000320485.7:p.Pro98Leu
ENST00000430799.7:c.-13+3079C>T ENSP00000390317.3:n.-13+3079C>T
ENST00000637465.1:c.-13+596C>T ENSP00000490650.1:n.-13+596C>T
ENST00000324856.11:c.293C>T ENSP00000320485.7:p.Pro98Leu
ENST00000457599.6:c.293C>T ENSP00000387636.2:p.Pro98Leu
NM_006015.4:c.293C>T , LRG_875t1:c.293C>T NP_006006.3:p.Pro98Leu
NM_139135.2:c.293C>T NP_624361.1:p.Pro98Leu
NM_006015.5:c.293C>T NP_006006.3:p.Pro98Leu
NM_139135.3:c.293C>T NP_624361.1:p.Pro98Leu
NM_006015.6:c.293C>T MANE Select NP_006006.3:p.Pro98Leu
NM_139135.4:c.293C>T NP_624361.1:p.Pro98Leu