Canonical Allele Identifier: CA474866363
Gene: TUT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.62344380T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62576908T>A , CM000673.2:g.62576908T>A GRCh38
NC_000011.9:g.62344380T>A , CM000673.1:g.62344380T>A GRCh37
NC_000011.8:g.62100956T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000476907.6:c.1380A>T MANE Select ENSP00000419607.1:p.Ala460=
ENST00000308436.11:c.1494A>T ENSP00000308000.7:p.Ala498=
ENST00000463241.2:n.245A>T
ENST00000469480.1:n.186A>T
ENST00000476907.5:c.1380A>T ENSP00000419607.1:p.Ala460=
ENST00000496634.2:c.1380A>T ENSP00000456163.1:p.Ala460=
ENST00000526409.5:n.250A>T
NM_022830.2:c.1494A>T NP_073741.2:p.Ala498=
NM_001367906.1:c.1321A>T NP_001354835.1:p.Arg441Trp
NM_022830.3:c.1380A>T MANE Select NP_073741.3:p.Ala460=