Canonical Allele Identifier: CA395417529
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844979G>A , CM000678.2:g.28844979G>A GRCh38
NC_000016.9:g.28856300G>A , CM000678.1:g.28856300G>A GRCh37
NC_000016.8:g.28763801G>A NCBI36
NG_008964.1:g.6430C>T
NG_029706.2:g.3380G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.491C>T MANE Select ENSP00000322439.3:p.Thr164Ile
ENST00000313511.7:c.491C>T ENSP00000322439.3:p.Thr164Ile
ENST00000561644.1:n.29C>T
ENST00000565012.1:c.*18C>T ENSP00000455007.1:n.*18C>T
NM_003321.4:c.491C>T NP_003312.3:p.Thr164Ile
XM_011545928.1:c.491C>T XP_011544230.1:p.Thr164Ile
NM_001365360.1:c.491C>T NP_001352289.1:p.Thr164Ile
NM_003321.5:c.491C>T MANE Select NP_003312.3:p.Thr164Ile
NM_001365360.2:c.491C>T NP_001352289.1:p.Thr164Ile