Canonical Allele Identifier: CA339184491

Gene: ARID1A

Linked Data

• dbSNP Id: rs372045959
• gnomAD v4: 1-26779170-C-G
• MyVariant Identifiers: chr1:g.27105661C>G (hg19) ; chr1:g.26779170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779170C>G , CM000663.2:g.26779170C>G	GRCh38
NC_000001.10:g.27105661C>G , CM000663.1:g.27105661C>G	GRCh37
NC_000001.9:g.26978248C>G	NCBI36
NG_029965.1:g.88140C>G , LRG_875:g.88140C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5272C>G MANE Select	ENSP00000320485.7:p.Pro1758Ala
ENST00000374152.7:c.4123C>G	ENSP00000363267.2:p.Pro1375Ala
ENST00000430799.7:c.4120C>G	ENSP00000390317.3:p.Pro1374Ala
ENST00000466382.2:c.689C>G
ENST00000636219.1:c.4126C>G	ENSP00000489842.1:p.Pro1376Ala
ENST00000637788.1:n.1072C>G
ENST00000324856.11:c.5272C>G	ENSP00000320485.7:p.Pro1758Ala
ENST00000374152.6:c.4123C>G	ENSP00000363267.2:p.Pro1375Ala
ENST00000430799.6:c.1961C>G
ENST00000457599.6:c.4621C>G	ENSP00000387636.2:p.Pro1541Ala
ENST00000466382.1:c.689C>G
ENST00000532781.1:c.770C>G
NM_006015.4:c.5272C>G , LRG_875t1:c.5272C>G	NP_006006.3:p.Pro1758Ala
NM_139135.2:c.4621C>G	NP_624361.1:p.Pro1541Ala
NM_006015.5:c.5272C>G	NP_006006.3:p.Pro1758Ala
NM_139135.3:c.4621C>G	NP_624361.1:p.Pro1541Ala
NM_006015.6:c.5272C>G MANE Select	NP_006006.3:p.Pro1758Ala
NM_139135.4:c.4621C>G	NP_624361.1:p.Pro1541Ala