Canonical Allele Identifier: CA494484812
Gene: TUFM HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.28856359A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845038A>C , CM000678.2:g.28845038A>C GRCh38
NC_000016.9:g.28856359A>C , CM000678.1:g.28856359A>C GRCh37
NC_000016.8:g.28763860A>C NCBI36
NG_008964.1:g.6371T>G
NG_029706.2:g.3439A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.432T>G MANE Select ENSP00000322439.3:p.Thr144=
ENST00000313511.7:c.432T>G ENSP00000322439.3:p.Thr144=
ENST00000565012.1:c.265T>G ENSP00000455007.1:p.Cys89Gly
NM_003321.4:c.432T>G NP_003312.3:p.Thr144=
XM_011545928.1:c.432T>G XP_011544230.1:p.Thr144=
NM_001365360.1:c.432T>G NP_001352289.1:p.Thr144=
NM_003321.5:c.432T>G MANE Select NP_003312.3:p.Thr144=
NM_001365360.2:c.432T>G NP_001352289.1:p.Thr144=