Canonical Allele Identifier: CA339184482

Gene: ARID1A

Linked Data

• dbSNP Id: rs2081165586
• gnomAD v4: 1-26779167-G-A
• MyVariant Identifiers: chr1:g.27105658G>A (hg19) ; chr1:g.26779167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779167G>A , CM000663.2:g.26779167G>A	GRCh38
NC_000001.10:g.27105658G>A , CM000663.1:g.27105658G>A	GRCh37
NC_000001.9:g.26978245G>A	NCBI36
NG_029965.1:g.88137G>A , LRG_875:g.88137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5269G>A MANE Select	ENSP00000320485.7:p.Ala1757Thr
ENST00000374152.7:c.4120G>A	ENSP00000363267.2:p.Ala1374Thr
ENST00000430799.7:c.4117G>A	ENSP00000390317.3:p.Ala1373Thr
ENST00000466382.2:c.686G>A
ENST00000636219.1:c.4123G>A	ENSP00000489842.1:p.Ala1375Thr
ENST00000637788.1:n.1069G>A
ENST00000324856.11:c.5269G>A	ENSP00000320485.7:p.Ala1757Thr
ENST00000374152.6:c.4120G>A	ENSP00000363267.2:p.Ala1374Thr
ENST00000430799.6:c.1958G>A
ENST00000457599.6:c.4618G>A	ENSP00000387636.2:p.Ala1540Thr
ENST00000466382.1:c.686G>A
ENST00000532781.1:c.767G>A
NM_006015.4:c.5269G>A , LRG_875t1:c.5269G>A	NP_006006.3:p.Ala1757Thr
NM_139135.2:c.4618G>A	NP_624361.1:p.Ala1540Thr
NM_006015.5:c.5269G>A	NP_006006.3:p.Ala1757Thr
NM_139135.3:c.4618G>A	NP_624361.1:p.Ala1540Thr
NM_006015.6:c.5269G>A MANE Select	NP_006006.3:p.Ala1757Thr
NM_139135.4:c.4618G>A	NP_624361.1:p.Ala1540Thr