Canonical Allele Identifier: CA416989221
Gene: ARID1A HGNC NCBI

Linked Data

dbSNP Id: rs2124741739
gnomAD v4: 1-26696811-T-C
MyVariant Identifiers: chr1:g.27023302T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696811T>C , CM000663.2:g.26696811T>C GRCh38
NC_000001.10:g.27023302T>C , CM000663.1:g.27023302T>C GRCh37
NC_000001.9:g.26895889T>C NCBI36
NG_029965.1:g.5781T>C , LRG_875:g.5781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.408T>C MANE Select ENSP00000320485.7:p.Pro136=
ENST00000430799.7:c.-13+3194T>C ENSP00000390317.3:n.-13+3194T>C
ENST00000637465.1:c.-13+711T>C ENSP00000490650.1:n.-13+711T>C
ENST00000324856.11:c.408T>C ENSP00000320485.7:p.Pro136=
ENST00000457599.6:c.408T>C ENSP00000387636.2:p.Pro136=
NM_006015.4:c.408T>C , LRG_875t1:c.408T>C NP_006006.3:p.Pro136=
NM_139135.2:c.408T>C NP_624361.1:p.Pro136=
NM_006015.5:c.408T>C NP_006006.3:p.Pro136=
NM_139135.3:c.408T>C NP_624361.1:p.Pro136=
NM_006015.6:c.408T>C MANE Select NP_006006.3:p.Pro136=
NM_139135.4:c.408T>C NP_624361.1:p.Pro136=