Canonical Allele Identifier: CA339184979

Gene: ARID1A

Linked Data

• dbSNP Id: rs1160398471
• gnomAD v2: 1-27105752-T-C
• gnomAD v4: 1-26779261-T-C
• MyVariant Identifiers: chr1:g.27105752T>C (hg19) ; chr1:g.26779261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779261T>C , CM000663.2:g.26779261T>C	GRCh38
NC_000001.10:g.27105752T>C , CM000663.1:g.27105752T>C	GRCh37
NC_000001.9:g.26978339T>C	NCBI36
NG_029965.1:g.88231T>C , LRG_875:g.88231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.5363T>C MANE Select	ENSP00000320485.7:p.Ile1788Thr
ENST00000374152.7:c.4214T>C	ENSP00000363267.2:p.Ile1405Thr
ENST00000430799.7:c.4211T>C	ENSP00000390317.3:p.Ile1404Thr
ENST00000466382.2:c.780T>C
ENST00000636219.1:c.4217T>C	ENSP00000489842.1:p.Ile1406Thr
ENST00000637788.1:n.1163T>C
ENST00000324856.11:c.5363T>C	ENSP00000320485.7:p.Ile1788Thr
ENST00000374152.6:c.4214T>C	ENSP00000363267.2:p.Ile1405Thr
ENST00000430799.6:c.2052T>C
ENST00000457599.6:c.4712T>C	ENSP00000387636.2:p.Ile1571Thr
ENST00000466382.1:c.780T>C
ENST00000532781.1:c.861T>C
NM_006015.4:c.5363T>C , LRG_875t1:c.5363T>C	NP_006006.3:p.Ile1788Thr
NM_139135.2:c.4712T>C	NP_624361.1:p.Ile1571Thr
NM_006015.5:c.5363T>C	NP_006006.3:p.Ile1788Thr
NM_139135.3:c.4712T>C	NP_624361.1:p.Ile1571Thr
NM_006015.6:c.5363T>C MANE Select	NP_006006.3:p.Ile1788Thr
NM_139135.4:c.4712T>C	NP_624361.1:p.Ile1571Thr