Canonical Allele Identifier: CA208601

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 210260
• ClinVar RCV Id: RCV000194434
• dbSNP Id: rs797045264
• COSMIC: COSM907734
• MyVariant Identifiers: chr1:g.27105527T>C (hg19) ; chr1:g.26779036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779036T>C , CM000663.2:g.26779036T>C	GRCh38
NC_000001.10:g.27105527T>C , CM000663.1:g.27105527T>C	GRCh37
NC_000001.9:g.26978114T>C	NCBI36
NG_029965.1:g.88006T>C , LRG_875:g.88006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5138T>C MANE Select	ENSP00000320485.7:p.Leu1713Pro
ENST00000374152.7:c.3989T>C	ENSP00000363267.2:p.Leu1330Pro
ENST00000430799.7:c.3986T>C	ENSP00000390317.3:p.Leu1329Pro
ENST00000466382.2:c.555T>C
ENST00000636219.1:c.3992T>C	ENSP00000489842.1:p.Leu1331Pro
ENST00000637788.1:n.938T>C
ENST00000324856.11:c.5138T>C	ENSP00000320485.7:p.Leu1713Pro
ENST00000374152.6:c.3989T>C	ENSP00000363267.2:p.Leu1330Pro
ENST00000430799.6:c.1827T>C
ENST00000457599.6:c.4487T>C	ENSP00000387636.2:p.Leu1496Pro
ENST00000466382.1:c.555T>C
ENST00000532781.1:c.636T>C
NM_006015.4:c.5138T>C , LRG_875t1:c.5138T>C	NP_006006.3:p.Leu1713Pro
NM_139135.2:c.4487T>C	NP_624361.1:p.Leu1496Pro
NM_006015.5:c.5138T>C	NP_006006.3:p.Leu1713Pro
NM_139135.3:c.4487T>C	NP_624361.1:p.Leu1496Pro
NM_006015.6:c.5138T>C MANE Select	NP_006006.3:p.Leu1713Pro
NM_139135.4:c.4487T>C	NP_624361.1:p.Leu1496Pro