Canonical Allele Identifier: CA395418680
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845441T>A , CM000678.2:g.28845441T>A GRCh38
NC_000016.9:g.28856762T>A , CM000678.1:g.28856762T>A GRCh37
NC_000016.8:g.28764263T>A NCBI36
NG_008964.1:g.5968A>T
NG_029706.2:g.3842T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.287A>T MANE Select ENSP00000322439.3:p.Glu96Val
ENST00000313511.7:c.287A>T ENSP00000322439.3:p.Glu96Val
ENST00000565012.1:c.248-386A>T ENSP00000455007.1:n.248-386A>T
NM_003321.4:c.287A>T NP_003312.3:p.Glu96Val
XM_011545928.1:c.287A>T XP_011544230.1:p.Glu96Val
NM_001365360.1:c.287A>T NP_001352289.1:p.Glu96Val
NM_003321.5:c.287A>T MANE Select NP_003312.3:p.Glu96Val
NM_001365360.2:c.287A>T NP_001352289.1:p.Glu96Val