Canonical Allele Identifier: CA380983672
Gene: TUT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62576999C>A , CM000673.2:g.62576999C>A GRCh38
NC_000011.9:g.62344471C>A , CM000673.1:g.62344471C>A GRCh37
NC_000011.8:g.62101047C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000476907.6:c.1289G>T MANE Select ENSP00000419607.1:p.Ser430Ile
ENST00000308436.11:c.1403G>T ENSP00000308000.7:p.Ser468Ile
ENST00000463241.2:n.154G>T
ENST00000469480.1:n.95G>T
ENST00000476907.5:c.1289G>T ENSP00000419607.1:p.Ser430Ile
ENST00000496634.2:c.1289G>T ENSP00000456163.1:p.Ser430Ile
ENST00000526409.5:n.159G>T
NM_022830.2:c.1403G>T NP_073741.2:p.Ser468Ile
NM_001367906.1:c.1271-41G>T NP_001354835.1:n.1271-41G>T
NM_022830.3:c.1289G>T MANE Select NP_073741.3:p.Ser430Ile