Canonical Allele Identifier: CA395418071
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845339C>G , CM000678.2:g.28845339C>G GRCh38
NC_000016.9:g.28856660C>G , CM000678.1:g.28856660C>G GRCh37
NC_000016.8:g.28764161C>G NCBI36
NG_008964.1:g.6070G>C
NG_029706.2:g.3740C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.389G>C MANE Select ENSP00000322439.3:p.Cys130Ser
ENST00000313511.7:c.389G>C ENSP00000322439.3:p.Cys130Ser
ENST00000565012.1:c.248-284G>C ENSP00000455007.1:n.248-284G>C
NM_003321.4:c.389G>C NP_003312.3:p.Cys130Ser
XM_011545928.1:c.389G>C XP_011544230.1:p.Cys130Ser
NM_001365360.1:c.389G>C NP_001352289.1:p.Cys130Ser
NM_003321.5:c.389G>C MANE Select NP_003312.3:p.Cys130Ser
NM_001365360.2:c.389G>C NP_001352289.1:p.Cys130Ser