Canonical Allele Identifier: CA395418665
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845437C>G , CM000678.2:g.28845437C>G GRCh38
NC_000016.9:g.28856758C>G , CM000678.1:g.28856758C>G GRCh37
NC_000016.8:g.28764259C>G NCBI36
NG_008964.1:g.5972G>C
NG_029706.2:g.3838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.291G>C MANE Select ENSP00000322439.3:p.Glu97Asp
ENST00000313511.7:c.291G>C ENSP00000322439.3:p.Glu97Asp
ENST00000565012.1:c.248-382G>C ENSP00000455007.1:n.248-382G>C
NM_003321.4:c.291G>C NP_003312.3:p.Glu97Asp
XM_011545928.1:c.291G>C XP_011544230.1:p.Glu97Asp
NM_001365360.1:c.291G>C NP_001352289.1:p.Glu97Asp
NM_003321.5:c.291G>C MANE Select NP_003312.3:p.Glu97Asp
NM_001365360.2:c.291G>C NP_001352289.1:p.Glu97Asp