Canonical Allele Identifier: CA395417440
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844956T>C , CM000678.2:g.28844956T>C GRCh38
NC_000016.9:g.28856277T>C , CM000678.1:g.28856277T>C GRCh37
NC_000016.8:g.28763778T>C NCBI36
NG_008964.1:g.6453A>G
NG_029706.2:g.3357T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.514A>G MANE Select ENSP00000322439.3:p.Arg172Gly
ENST00000313511.7:c.514A>G ENSP00000322439.3:p.Arg172Gly
ENST00000561644.1:n.52A>G
ENST00000565012.1:c.*41A>G ENSP00000455007.1:n.*41A>G
NM_003321.4:c.514A>G NP_003312.3:p.Arg172Gly
XM_011545928.1:c.514A>G XP_011544230.1:p.Arg172Gly
NM_001365360.1:c.514A>G NP_001352289.1:p.Arg172Gly
NM_003321.5:c.514A>G MANE Select NP_003312.3:p.Arg172Gly
NM_001365360.2:c.514A>G NP_001352289.1:p.Arg172Gly