Canonical Allele Identifier: CA339265066

Gene: ARID1A

Linked Data

• dbSNP Id: rs2124741683
• gnomAD v4: 1-26696797-G-C
• MyVariant Identifiers: chr1:g.27023288G>C (hg19) ; chr1:g.26696797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696797G>C , CM000663.2:g.26696797G>C	GRCh38
NC_000001.10:g.27023288G>C , CM000663.1:g.27023288G>C	GRCh37
NC_000001.9:g.26895875G>C	NCBI36
NG_029965.1:g.5767G>C , LRG_875:g.5767G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.394G>C MANE Select	ENSP00000320485.7:p.Val132Leu
ENST00000430799.7:c.-13+3180G>C	ENSP00000390317.3:n.-13+3180G>C
ENST00000637465.1:c.-13+697G>C	ENSP00000490650.1:n.-13+697G>C
ENST00000324856.11:c.394G>C	ENSP00000320485.7:p.Val132Leu
ENST00000457599.6:c.394G>C	ENSP00000387636.2:p.Val132Leu
NM_006015.4:c.394G>C , LRG_875t1:c.394G>C	NP_006006.3:p.Val132Leu
NM_139135.2:c.394G>C	NP_624361.1:p.Val132Leu
NM_006015.5:c.394G>C	NP_006006.3:p.Val132Leu
NM_139135.3:c.394G>C	NP_624361.1:p.Val132Leu
NM_006015.6:c.394G>C MANE Select	NP_006006.3:p.Val132Leu
NM_139135.4:c.394G>C	NP_624361.1:p.Val132Leu