Canonical Allele Identifier: CA339265041
Gene: ARID1A HGNC NCBI

Linked Data

gnomAD v4: 1-26696791-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696791G>T , CM000663.2:g.26696791G>T GRCh38
NC_000001.10:g.27023282G>T , CM000663.1:g.27023282G>T GRCh37
NC_000001.9:g.26895869G>T NCBI36
NG_029965.1:g.5761G>T , LRG_875:g.5761G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.388G>T MANE Select ENSP00000320485.7:p.Asp130Tyr
ENST00000430799.7:c.-13+3174G>T ENSP00000390317.3:n.-13+3174G>T
ENST00000637465.1:c.-13+691G>T ENSP00000490650.1:n.-13+691G>T
ENST00000324856.11:c.388G>T ENSP00000320485.7:p.Asp130Tyr
ENST00000457599.6:c.388G>T ENSP00000387636.2:p.Asp130Tyr
NM_006015.4:c.388G>T , LRG_875t1:c.388G>T NP_006006.3:p.Asp130Tyr
NM_139135.2:c.388G>T NP_624361.1:p.Asp130Tyr
NM_006015.5:c.388G>T NP_006006.3:p.Asp130Tyr
NM_139135.3:c.388G>T NP_624361.1:p.Asp130Tyr
NM_006015.6:c.388G>T MANE Select NP_006006.3:p.Asp130Tyr
NM_139135.4:c.388G>T NP_624361.1:p.Asp130Tyr