Canonical Allele Identifier: CA395418661
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845436T>A , CM000678.2:g.28845436T>A GRCh38
NC_000016.9:g.28856757T>A , CM000678.1:g.28856757T>A GRCh37
NC_000016.8:g.28764258T>A NCBI36
NG_008964.1:g.5973A>T
NG_029706.2:g.3837T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.292A>T MANE Select ENSP00000322439.3:p.Ile98Phe
ENST00000313511.7:c.292A>T ENSP00000322439.3:p.Ile98Phe
ENST00000565012.1:c.248-381A>T ENSP00000455007.1:n.248-381A>T
NM_003321.4:c.292A>T NP_003312.3:p.Ile98Phe
XM_011545928.1:c.292A>T XP_011544230.1:p.Ile98Phe
NM_001365360.1:c.292A>T NP_001352289.1:p.Ile98Phe
NM_003321.5:c.292A>T MANE Select NP_003312.3:p.Ile98Phe
NM_001365360.2:c.292A>T NP_001352289.1:p.Ile98Phe