Canonical Allele Identifier: CA395417790
Gene: TUFM HGNC NCBI

Linked Data

gnomAD v4: 16-28845047-G-C
MyVariant Identifiers: chr16:g.28856368G>C (hg19) chr16:g.28845047G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845047G>C , CM000678.2:g.28845047G>C GRCh38
NC_000016.9:g.28856368G>C , CM000678.1:g.28856368G>C GRCh37
NC_000016.8:g.28763869G>C NCBI36
NG_008964.1:g.6362C>G
NG_029706.2:g.3448G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.423C>G MANE Select ENSP00000322439.3:p.Ile141Met
ENST00000313511.7:c.423C>G ENSP00000322439.3:p.Ile141Met
ENST00000565012.1:c.256C>G ENSP00000455007.1:p.His86Asp
NM_003321.4:c.423C>G NP_003312.3:p.Ile141Met
XM_011545928.1:c.423C>G XP_011544230.1:p.Ile141Met
NM_001365360.1:c.423C>G NP_001352289.1:p.Ile141Met
NM_003321.5:c.423C>G MANE Select NP_003312.3:p.Ile141Met
NM_001365360.2:c.423C>G NP_001352289.1:p.Ile141Met
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