Canonical Allele Identifier: CA339264640

Gene: ARID1A

Linked Data

• dbSNP Id: rs2080256862
• gnomAD v4: 1-26696617-G-C
• MyVariant Identifiers: chr1:g.27023108G>C (hg19) ; chr1:g.26696617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696617G>C , CM000663.2:g.26696617G>C	GRCh38
NC_000001.10:g.27023108G>C , CM000663.1:g.27023108G>C	GRCh37
NC_000001.9:g.26895695G>C	NCBI36
NG_029965.1:g.5587G>C , LRG_875:g.5587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.214G>C MANE Select	ENSP00000320485.7:p.Glu72Gln
ENST00000430799.7:c.-13+3000G>C	ENSP00000390317.3:n.-13+3000G>C
ENST00000637465.1:c.-13+517G>C	ENSP00000490650.1:n.-13+517G>C
ENST00000324856.11:c.214G>C	ENSP00000320485.7:p.Glu72Gln
ENST00000457599.6:c.214G>C	ENSP00000387636.2:p.Glu72Gln
NM_006015.4:c.214G>C , LRG_875t1:c.214G>C	NP_006006.3:p.Glu72Gln
NM_139135.2:c.214G>C	NP_624361.1:p.Glu72Gln
NM_006015.5:c.214G>C	NP_006006.3:p.Glu72Gln
NM_139135.3:c.214G>C	NP_624361.1:p.Glu72Gln
NM_006015.6:c.214G>C MANE Select	NP_006006.3:p.Glu72Gln
NM_139135.4:c.214G>C	NP_624361.1:p.Glu72Gln