Canonical Allele Identifier: CA339265024

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1392470
• ClinVar RCV Id: RCV001896238
• dbSNP Id: rs1345718044
• gnomAD v2: 1-27023279-A-T
• gnomAD v3: 1-26696788-A-T
• gnomAD v4: 1-26696788-A-T
• MyVariant Identifiers: chr1:g.27023279A>T (hg19) ; chr1:g.26696788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696788A>T , CM000663.2:g.26696788A>T	GRCh38
NC_000001.10:g.27023279A>T , CM000663.1:g.27023279A>T	GRCh37
NC_000001.9:g.26895866A>T	NCBI36
NG_029965.1:g.5758A>T , LRG_875:g.5758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.385A>T MANE Select	ENSP00000320485.7:p.Ser129Cys
ENST00000430799.7:c.-13+3171A>T	ENSP00000390317.3:n.-13+3171A>T
ENST00000637465.1:c.-13+688A>T	ENSP00000490650.1:n.-13+688A>T
ENST00000324856.11:c.385A>T	ENSP00000320485.7:p.Ser129Cys
ENST00000457599.6:c.385A>T	ENSP00000387636.2:p.Ser129Cys
NM_006015.4:c.385A>T , LRG_875t1:c.385A>T	NP_006006.3:p.Ser129Cys
NM_139135.2:c.385A>T	NP_624361.1:p.Ser129Cys
NM_006015.5:c.385A>T	NP_006006.3:p.Ser129Cys
NM_139135.3:c.385A>T	NP_624361.1:p.Ser129Cys
NM_006015.6:c.385A>T MANE Select	NP_006006.3:p.Ser129Cys
NM_139135.4:c.385A>T	NP_624361.1:p.Ser129Cys