Canonical Allele Identifier: CA395417533
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844980T>C , CM000678.2:g.28844980T>C GRCh38
NC_000016.9:g.28856301T>C , CM000678.1:g.28856301T>C GRCh37
NC_000016.8:g.28763802T>C NCBI36
NG_008964.1:g.6429A>G
NG_029706.2:g.3381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.490A>G MANE Select ENSP00000322439.3:p.Thr164Ala
ENST00000313511.7:c.490A>G ENSP00000322439.3:p.Thr164Ala
ENST00000561644.1:n.28A>G
ENST00000565012.1:c.*17A>G ENSP00000455007.1:n.*17A>G
NM_003321.4:c.490A>G NP_003312.3:p.Thr164Ala
XM_011545928.1:c.490A>G XP_011544230.1:p.Thr164Ala
NM_001365360.1:c.490A>G NP_001352289.1:p.Thr164Ala
NM_003321.5:c.490A>G MANE Select NP_003312.3:p.Thr164Ala
NM_001365360.2:c.490A>G NP_001352289.1:p.Thr164Ala