Canonical Allele Identifier: CA156912

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 133547
• ClinVar RCV Id: RCV000120060 ; RCV001582591
• dbSNP Id: rs145886877
• ExAC: 1:27099108 C / T
• gnomAD v2: 1-27099108-C-T
• gnomAD v3: 1-26772617-C-T
• gnomAD v4: 1-26772617-C-T
• MyVariant Identifiers: chr1:g.27099108C>T (hg19) ; chr1:g.26772617C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26772617C>T , CM000663.2:g.26772617C>T	GRCh38
NC_000001.10:g.27099108C>T , CM000663.1:g.27099108C>T	GRCh37
NC_000001.9:g.26971695C>T	NCBI36
NG_029965.1:g.81587C>T , LRG_875:g.81587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.3524C>T MANE Select	ENSP00000320485.7:p.Pro1175Leu
ENST00000374152.7:c.2375C>T	ENSP00000363267.2:p.Pro792Leu
ENST00000430799.7:c.2375C>T	ENSP00000390317.3:p.Pro792Leu
ENST00000636110.1:n.3444C>T
ENST00000636219.1:c.2381C>T	ENSP00000489842.1:p.Pro794Leu
ENST00000324856.11:c.3524C>T	ENSP00000320485.7:p.Pro1175Leu
ENST00000374152.6:c.2375C>T	ENSP00000363267.2:p.Pro792Leu
ENST00000430799.6:c.216C>T
ENST00000457599.6:c.3524C>T	ENSP00000387636.2:p.Pro1175Leu
ENST00000615191.4:c.2372C>T	ENSP00000478955.1:p.Pro791Leu
NM_006015.4:c.3524C>T , LRG_875t1:c.3524C>T	NP_006006.3:p.Pro1175Leu
NM_139135.2:c.3524C>T	NP_624361.1:p.Pro1175Leu
NM_006015.5:c.3524C>T	NP_006006.3:p.Pro1175Leu
NM_139135.3:c.3524C>T	NP_624361.1:p.Pro1175Leu
NM_006015.6:c.3524C>T MANE Select	NP_006006.3:p.Pro1175Leu
NM_139135.4:c.3524C>T	NP_624361.1:p.Pro1175Leu