Canonical Allele Identifier: CA2215862885
Gene: TUFM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844908T= , CM000678.2:g.28844908T= GRCh38
NC_000016.9:g.28856229T= , CM000678.1:g.28856229T= GRCh37
NC_000016.8:g.28763730T= NCBI36
NG_008964.1:g.6501A=
NG_029706.2:g.3309T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.519+43A= MANE Select ENSP00000322439.3:n.519+43A=
ENST00000313511.7:c.519+43A= ENSP00000322439.3:n.519+43A=
ENST00000561644.1:n.57+43A=
ENST00000565012.1:c.*46+43A= ENSP00000455007.1:n.*46+43A=
NM_003321.4:c.519+43A= NP_003312.3:n.519+43A=
XM_011545928.1:c.519+43A= XP_011544230.1:n.519+43A=
NM_001365360.1:c.519+43A= NP_001352289.1:n.519+43A=
NM_003321.5:c.519+43A= MANE Select NP_003312.3:n.519+43A=
NM_001365360.2:c.519+43A= NP_001352289.1:n.519+43A=
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