Canonical Allele Identifier: CA339264585

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2533192
• ClinVar RCV Id: RCV003286222
• dbSNP Id: rs1367702736
• gnomAD v3: 1-26696590-G-T
• gnomAD v4: 1-26696590-G-T
• MyVariant Identifiers: chr1:g.27023081G>T (hg19) ; chr1:g.26696590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696590G>T , CM000663.2:g.26696590G>T	GRCh38
NC_000001.10:g.27023081G>T , CM000663.1:g.27023081G>T	GRCh37
NC_000001.9:g.26895668G>T	NCBI36
NG_029965.1:g.5560G>T , LRG_875:g.5560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.187G>T MANE Select	ENSP00000320485.7:p.Val63Leu
ENST00000430799.7:c.-13+2973G>T	ENSP00000390317.3:n.-13+2973G>T
ENST00000637465.1:c.-13+490G>T	ENSP00000490650.1:n.-13+490G>T
ENST00000324856.11:c.187G>T	ENSP00000320485.7:p.Val63Leu
ENST00000457599.6:c.187G>T	ENSP00000387636.2:p.Val63Leu
NM_006015.4:c.187G>T , LRG_875t1:c.187G>T	NP_006006.3:p.Val63Leu
NM_139135.2:c.187G>T	NP_624361.1:p.Val63Leu
NM_006015.5:c.187G>T	NP_006006.3:p.Val63Leu
NM_139135.3:c.187G>T	NP_624361.1:p.Val63Leu
NM_006015.6:c.187G>T MANE Select	NP_006006.3:p.Val63Leu
NM_139135.4:c.187G>T	NP_624361.1:p.Val63Leu