Canonical Allele Identifier: CA7985678
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs144065805
ExAC: 16:28856728 C / T
gnomAD v2: 16-28856728-C-T
gnomAD v3: 16-28845407-C-T
gnomAD v4: 16-28845407-C-T
MyVariant Identifiers: chr16:g.28856728C>T (hg19) chr16:g.28845407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845407C>T , CM000678.2:g.28845407C>T GRCh38
NC_000016.9:g.28856728C>T , CM000678.1:g.28856728C>T GRCh37
NC_000016.8:g.28764229C>T NCBI36
NG_008964.1:g.6002G>A
NG_029706.2:g.3808C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.321G>A MANE Select ENSP00000322439.3:p.Arg107=
ENST00000313511.7:c.321G>A ENSP00000322439.3:p.Arg107=
ENST00000565012.1:c.248-352G>A ENSP00000455007.1:n.248-352G>A
NM_003321.4:c.321G>A NP_003312.3:p.Arg107=
XM_011545928.1:c.321G>A XP_011544230.1:p.Arg107=
NM_001365360.1:c.321G>A NP_001352289.1:p.Arg107=
NM_003321.5:c.321G>A MANE Select NP_003312.3:p.Arg107=
NM_001365360.2:c.321G>A NP_001352289.1:p.Arg107=
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