Canonical Allele Identifier: CA339264560

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1065491
• ClinVar RCV Id: RCV001376026
• dbSNP Id: rs2124740577
• gnomAD v4: 1-26696578-G-T
• MyVariant Identifiers: chr1:g.27023069G>T (hg19) ; chr1:g.26696578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696578G>T , CM000663.2:g.26696578G>T	GRCh38
NC_000001.10:g.27023069G>T , CM000663.1:g.27023069G>T	GRCh37
NC_000001.9:g.26895656G>T	NCBI36
NG_029965.1:g.5548G>T , LRG_875:g.5548G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.175G>T MANE Select	ENSP00000320485.7:p.Glu59Ter
ENST00000430799.7:c.-13+2961G>T	ENSP00000390317.3:n.-13+2961G>T
ENST00000637465.1:c.-13+478G>T	ENSP00000490650.1:n.-13+478G>T
ENST00000324856.11:c.175G>T	ENSP00000320485.7:p.Glu59Ter
ENST00000457599.6:c.175G>T	ENSP00000387636.2:p.Glu59Ter
NM_006015.4:c.175G>T , LRG_875t1:c.175G>T	NP_006006.3:p.Glu59Ter
NM_139135.2:c.175G>T	NP_624361.1:p.Glu59Ter
NM_006015.5:c.175G>T	NP_006006.3:p.Glu59Ter
NM_139135.3:c.175G>T	NP_624361.1:p.Glu59Ter
NM_006015.6:c.175G>T MANE Select	NP_006006.3:p.Glu59Ter
NM_139135.4:c.175G>T	NP_624361.1:p.Glu59Ter