Canonical Allele Identifier: CA339156062

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2582240
• ClinVar RCV Id: RCV003332941
• dbSNP Id: rs2124067653
• MyVariant Identifiers: chr1:g.27089478C>T (hg19) ; chr1:g.26762987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26762987C>T , CM000663.2:g.26762987C>T	GRCh38
NC_000001.10:g.27089478C>T , CM000663.1:g.27089478C>T	GRCh37
NC_000001.9:g.26962065C>T	NCBI36
NG_029965.1:g.71957C>T , LRG_875:g.71957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.2434C>T MANE Select	ENSP00000320485.7:p.Gln812Ter
ENST00000374152.7:c.1285C>T	ENSP00000363267.2:p.Gln429Ter
ENST00000430799.7:c.1285C>T	ENSP00000390317.3:p.Gln429Ter
ENST00000636219.1:c.1291C>T	ENSP00000489842.1:p.Gln431Ter
ENST00000636958.1:n.804C>T
ENST00000324856.11:c.2434C>T	ENSP00000320485.7:p.Gln812Ter
ENST00000374152.6:c.1285C>T	ENSP00000363267.2:p.Gln429Ter
ENST00000457599.6:c.2434C>T	ENSP00000387636.2:p.Gln812Ter
ENST00000615191.4:c.1285C>T	ENSP00000478955.1:p.Gln429Ter
NM_006015.4:c.2434C>T , LRG_875t1:c.2434C>T	NP_006006.3:p.Gln812Ter
NM_139135.2:c.2434C>T	NP_624361.1:p.Gln812Ter
NM_006015.5:c.2434C>T	NP_006006.3:p.Gln812Ter
NM_139135.3:c.2434C>T	NP_624361.1:p.Gln812Ter
NM_006015.6:c.2434C>T MANE Select	NP_006006.3:p.Gln812Ter
NM_139135.4:c.2434C>T	NP_624361.1:p.Gln812Ter