Canonical Allele Identifier: CA395417429
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844953G>C , CM000678.2:g.28844953G>C GRCh38
NC_000016.9:g.28856274G>C , CM000678.1:g.28856274G>C GRCh37
NC_000016.8:g.28763775G>C NCBI36
NG_008964.1:g.6456C>G
NG_029706.2:g.3354G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.517C>G MANE Select ENSP00000322439.3:p.Gln173Glu
ENST00000313511.7:c.517C>G ENSP00000322439.3:p.Gln173Glu
ENST00000561644.1:n.55C>G
ENST00000565012.1:c.*44C>G ENSP00000455007.1:n.*44C>G
NM_003321.4:c.517C>G NP_003312.3:p.Gln173Glu
XM_011545928.1:c.517C>G XP_011544230.1:p.Gln173Glu
NM_001365360.1:c.517C>G NP_001352289.1:p.Gln173Glu
NM_003321.5:c.517C>G MANE Select NP_003312.3:p.Gln173Glu
NM_001365360.2:c.517C>G NP_001352289.1:p.Gln173Glu