Canonical Allele Identifier: CA339265125

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2505827
• ClinVar RCV Id: RCV003236059
• dbSNP Id: rs2124741761
• gnomAD v4: 1-26696815-T-C
• MyVariant Identifiers: chr1:g.27023306T>C (hg19) ; chr1:g.26696815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696815T>C , CM000663.2:g.26696815T>C	GRCh38
NC_000001.10:g.27023306T>C , CM000663.1:g.27023306T>C	GRCh37
NC_000001.9:g.26895893T>C	NCBI36
NG_029965.1:g.5785T>C , LRG_875:g.5785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.412T>C MANE Select	ENSP00000320485.7:p.Ser138Pro
ENST00000430799.7:c.-13+3198T>C	ENSP00000390317.3:n.-13+3198T>C
ENST00000637465.1:c.-13+715T>C	ENSP00000490650.1:n.-13+715T>C
ENST00000324856.11:c.412T>C	ENSP00000320485.7:p.Ser138Pro
ENST00000457599.6:c.412T>C	ENSP00000387636.2:p.Ser138Pro
NM_006015.4:c.412T>C , LRG_875t1:c.412T>C	NP_006006.3:p.Ser138Pro
NM_139135.2:c.412T>C	NP_624361.1:p.Ser138Pro
NM_006015.5:c.412T>C	NP_006006.3:p.Ser138Pro
NM_139135.3:c.412T>C	NP_624361.1:p.Ser138Pro
NM_006015.6:c.412T>C MANE Select	NP_006006.3:p.Ser138Pro
NM_139135.4:c.412T>C	NP_624361.1:p.Ser138Pro