Canonical Allele Identifier: CA339184365

Gene: ARID1A

Linked Data

• dbSNP Id: rs2124137405
• gnomAD v4: 1-26779138-C-T
• MyVariant Identifiers: chr1:g.27105629C>T (hg19) ; chr1:g.26779138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779138C>T , CM000663.2:g.26779138C>T	GRCh38
NC_000001.10:g.27105629C>T , CM000663.1:g.27105629C>T	GRCh37
NC_000001.9:g.26978216C>T	NCBI36
NG_029965.1:g.88108C>T , LRG_875:g.88108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5240C>T MANE Select	ENSP00000320485.7:p.Pro1747Leu
ENST00000374152.7:c.4091C>T	ENSP00000363267.2:p.Pro1364Leu
ENST00000430799.7:c.4088C>T	ENSP00000390317.3:p.Pro1363Leu
ENST00000466382.2:c.657C>T
ENST00000636219.1:c.4094C>T	ENSP00000489842.1:p.Pro1365Leu
ENST00000637788.1:n.1040C>T
ENST00000324856.11:c.5240C>T	ENSP00000320485.7:p.Pro1747Leu
ENST00000374152.6:c.4091C>T	ENSP00000363267.2:p.Pro1364Leu
ENST00000430799.6:c.1929C>T
ENST00000457599.6:c.4589C>T	ENSP00000387636.2:p.Pro1530Leu
ENST00000466382.1:c.657C>T
ENST00000532781.1:c.738C>T
NM_006015.4:c.5240C>T , LRG_875t1:c.5240C>T	NP_006006.3:p.Pro1747Leu
NM_139135.2:c.4589C>T	NP_624361.1:p.Pro1530Leu
NM_006015.5:c.5240C>T	NP_006006.3:p.Pro1747Leu
NM_139135.3:c.4589C>T	NP_624361.1:p.Pro1530Leu
NM_006015.6:c.5240C>T MANE Select	NP_006006.3:p.Pro1747Leu
NM_139135.4:c.4589C>T	NP_624361.1:p.Pro1530Leu