Canonical Allele Identifier: CA339267800
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1339820
ClinVar RCV Id: RCV001825203
dbSNP Id: rs2124785718
gnomAD v4: 1-26729838-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26729838T>C , CM000663.2:g.26729838T>C GRCh38
NC_000001.10:g.27056329T>C , CM000663.1:g.27056329T>C GRCh37
NC_000001.9:g.26928916T>C NCBI36
NG_029965.1:g.38808T>C , LRG_875:g.38808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.1325T>C MANE Select ENSP00000320485.7:p.Met442Thr
ENST00000374152.7:c.176T>C ENSP00000363267.2:p.Met59Thr
ENST00000430799.7:c.176T>C ENSP00000390317.3:p.Met59Thr
ENST00000636219.1:c.182T>C ENSP00000489842.1:p.Met61Thr
ENST00000637465.1:c.176T>C ENSP00000490650.1:p.Met59Thr
ENST00000324856.11:c.1325T>C ENSP00000320485.7:p.Met442Thr
ENST00000374152.6:c.176T>C ENSP00000363267.2:p.Met59Thr
ENST00000457599.6:c.1325T>C ENSP00000387636.2:p.Met442Thr
ENST00000524572.1:c.176T>C ENSP00000432473.1:p.Met59Thr
ENST00000615191.4:c.176T>C ENSP00000478955.1:p.Met59Thr
NM_006015.4:c.1325T>C , LRG_875t1:c.1325T>C NP_006006.3:p.Met442Thr
NM_139135.2:c.1325T>C NP_624361.1:p.Met442Thr
NM_006015.5:c.1325T>C NP_006006.3:p.Met442Thr
NM_139135.3:c.1325T>C NP_624361.1:p.Met442Thr
NM_006015.6:c.1325T>C MANE Select NP_006006.3:p.Met442Thr
NM_139135.4:c.1325T>C NP_624361.1:p.Met442Thr