Canonical Allele Identifier: CA706584
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1012517
ClinVar RCV Id: RCV001310514
dbSNP Id: rs757540852
ExAC: 1:27023251 G / A
gnomAD v2: 1-27023251-G-A
gnomAD v3: 1-26696760-G-A
gnomAD v4: 1-26696760-G-A
MyVariant Identifiers: chr1:g.27023251G>A (hg19) chr1:g.26696760G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696760G>A , CM000663.2:g.26696760G>A GRCh38
NC_000001.10:g.27023251G>A , CM000663.1:g.27023251G>A GRCh37
NC_000001.9:g.26895838G>A NCBI36
NG_029965.1:g.5730G>A , LRG_875:g.5730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.357G>A MANE Select ENSP00000320485.7:p.Glu119=
ENST00000430799.7:c.-13+3143G>A ENSP00000390317.3:n.-13+3143G>A
ENST00000637465.1:c.-13+660G>A ENSP00000490650.1:n.-13+660G>A
ENST00000324856.11:c.357G>A ENSP00000320485.7:p.Glu119=
ENST00000457599.6:c.357G>A ENSP00000387636.2:p.Glu119=
NM_006015.4:c.357G>A , LRG_875t1:c.357G>A NP_006006.3:p.Glu119=
NM_139135.2:c.357G>A NP_624361.1:p.Glu119=
NM_006015.5:c.357G>A NP_006006.3:p.Glu119=
NM_139135.3:c.357G>A NP_624361.1:p.Glu119=
NM_006015.6:c.357G>A MANE Select NP_006006.3:p.Glu119=
NM_139135.4:c.357G>A NP_624361.1:p.Glu119=
Search 100 bp 5'
Search 100 bp 3'