Canonical Allele Identifier: CA10576101

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 225842
• ClinVar RCV Id: RCV000211084
• dbSNP Id: rs879255270
• COSMIC: COSM51425
• MyVariant Identifiers: chr1:g.27106354C>T (hg19) ; chr1:g.26779863C>T (hg38)
• PubMed: PMID:23906836 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779863C>T , CM000663.2:g.26779863C>T	GRCh38
NC_000001.10:g.27106354C>T , CM000663.1:g.27106354C>T	GRCh37
NC_000001.9:g.26978941C>T	NCBI36
NG_029965.1:g.88833C>T , LRG_875:g.88833C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.5965C>T MANE Select	ENSP00000320485.7:p.Arg1989Ter
ENST00000374152.7:c.4816C>T	ENSP00000363267.2:p.Arg1606Ter
ENST00000430799.7:c.4813C>T	ENSP00000390317.3:p.Arg1605Ter
ENST00000466382.2:c.1382C>T
ENST00000636219.1:c.4819C>T	ENSP00000489842.1:p.Arg1607Ter
ENST00000637788.1:n.1765C>T
ENST00000324856.11:c.5965C>T	ENSP00000320485.7:p.Arg1989Ter
ENST00000374152.6:c.4816C>T	ENSP00000363267.2:p.Arg1606Ter
ENST00000430799.6:c.2654C>T
ENST00000457599.6:c.5314C>T	ENSP00000387636.2:p.Arg1772Ter
ENST00000466382.1:c.1382C>T
ENST00000532781.1:c.1463C>T
NM_006015.4:c.5965C>T , LRG_875t1:c.5965C>T	NP_006006.3:p.Arg1989Ter
NM_139135.2:c.5314C>T	NP_624361.1:p.Arg1772Ter
NM_006015.5:c.5965C>T	NP_006006.3:p.Arg1989Ter
NM_139135.3:c.5314C>T	NP_624361.1:p.Arg1772Ter
NM_006015.6:c.5965C>T MANE Select	NP_006006.3:p.Arg1989Ter
NM_139135.4:c.5314C>T	NP_624361.1:p.Arg1772Ter