Canonical Allele Identifier: CA279238836
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs988567115

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845480A>C , CM000678.2:g.28845480A>C GRCh38
NC_000016.9:g.28856801A>C , CM000678.1:g.28856801A>C GRCh37
NC_000016.8:g.28764302A>C NCBI36
NG_008964.1:g.5929T>G
NG_029706.2:g.3881A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.248T>G MANE Select ENSP00000322439.3:p.Ile83Ser
ENST00000313511.7:c.248T>G ENSP00000322439.3:p.Ile83Ser
ENST00000565012.1:c.248-425T>G ENSP00000455007.1:n.248-425T>G
NM_003321.4:c.248T>G NP_003312.3:p.Ile83Ser
XM_011545928.1:c.248T>G XP_011544230.1:p.Ile83Ser
NM_001365360.1:c.248T>G NP_001352289.1:p.Ile83Ser
NM_003321.5:c.248T>G MANE Select NP_003312.3:p.Ile83Ser
NM_001365360.2:c.248T>G NP_001352289.1:p.Ile83Ser