Canonical Allele Identifier: CA395418614
Gene: TUFM HGNC NCBI

Linked Data

ClinVar Variation Id: 2013344
ClinVar RCV Id: RCV002834604

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845424G>A , CM000678.2:g.28845424G>A GRCh38
NC_000016.9:g.28856745G>A , CM000678.1:g.28856745G>A GRCh37
NC_000016.8:g.28764246G>A NCBI36
NG_008964.1:g.5985C>T
NG_029706.2:g.3825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.304C>T MANE Select ENSP00000322439.3:p.Pro102Ser
ENST00000313511.7:c.304C>T ENSP00000322439.3:p.Pro102Ser
ENST00000565012.1:c.248-369C>T ENSP00000455007.1:n.248-369C>T
NM_003321.4:c.304C>T NP_003312.3:p.Pro102Ser
XM_011545928.1:c.304C>T XP_011544230.1:p.Pro102Ser
NM_001365360.1:c.304C>T NP_001352289.1:p.Pro102Ser
NM_003321.5:c.304C>T MANE Select NP_003312.3:p.Pro102Ser
NM_001365360.2:c.304C>T NP_001352289.1:p.Pro102Ser