Canonical Allele Identifier: CA380983651
Gene: TUT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62576995G>T , CM000673.2:g.62576995G>T GRCh38
NC_000011.9:g.62344467G>T , CM000673.1:g.62344467G>T GRCh37
NC_000011.8:g.62101043G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000476907.6:c.1293C>A MANE Select ENSP00000419607.1:p.Asn431Lys
ENST00000308436.11:c.1407C>A ENSP00000308000.7:p.Asn469Lys
ENST00000463241.2:n.158C>A
ENST00000469480.1:n.99C>A
ENST00000476907.5:c.1293C>A ENSP00000419607.1:p.Asn431Lys
ENST00000496634.2:c.1293C>A ENSP00000456163.1:p.Asn431Lys
ENST00000526409.5:n.163C>A
NM_022830.2:c.1407C>A NP_073741.2:p.Asn469Lys
NM_001367906.1:c.1271-37C>A NP_001354835.1:n.1271-37C>A
NM_022830.3:c.1293C>A MANE Select NP_073741.3:p.Asn431Lys