Canonical Allele Identifier: CA706776

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2498397
• ClinVar RCV Id: RCV003222606
• dbSNP Id: rs760085692
• ExAC: 1:27057654 T / C
• gnomAD v2: 1-27057654-T-C
• gnomAD v3: 1-26731163-T-C
• gnomAD v4: 1-26731163-T-C
• MyVariant Identifiers: chr1:g.27057654T>C (hg19) ; chr1:g.26731163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26731163T>C , CM000663.2:g.26731163T>C	GRCh38
NC_000001.10:g.27057654T>C , CM000663.1:g.27057654T>C	GRCh37
NC_000001.9:g.26930241T>C	NCBI36
NG_029965.1:g.40133T>C , LRG_875:g.40133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.1362T>C MANE Select	ENSP00000320485.7:p.Tyr454=
ENST00000374152.7:c.213T>C	ENSP00000363267.2:p.Tyr71=
ENST00000430799.7:c.213T>C	ENSP00000390317.3:p.Tyr71=
ENST00000636219.1:c.219T>C	ENSP00000489842.1:p.Tyr73=
ENST00000637465.1:c.213T>C	ENSP00000490650.1:p.Tyr71=
ENST00000324856.11:c.1362T>C	ENSP00000320485.7:p.Tyr454=
ENST00000374152.6:c.213T>C	ENSP00000363267.2:p.Tyr71=
ENST00000457599.6:c.1362T>C	ENSP00000387636.2:p.Tyr454=
ENST00000524572.1:c.213T>C	ENSP00000432473.1:p.Tyr71=
ENST00000615191.4:c.213T>C	ENSP00000478955.1:p.Tyr71=
NM_006015.4:c.1362T>C , LRG_875t1:c.1362T>C	NP_006006.3:p.Tyr454=
NM_139135.2:c.1362T>C	NP_624361.1:p.Tyr454=
NM_006015.5:c.1362T>C	NP_006006.3:p.Tyr454=
NM_139135.3:c.1362T>C	NP_624361.1:p.Tyr454=
NM_006015.6:c.1362T>C MANE Select	NP_006006.3:p.Tyr454=
NM_139135.4:c.1362T>C	NP_624361.1:p.Tyr454=