Canonical Allele Identifier: CA395418518
Gene: TUFM HGNC NCBI

Linked Data

ClinVar Variation Id: 427129
ClinVar RCV Id: RCV000489780
dbSNP Id: rs1085307974

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845408C>G , CM000678.2:g.28845408C>G GRCh38
NC_000016.9:g.28856729C>G , CM000678.1:g.28856729C>G GRCh37
NC_000016.8:g.28764230C>G NCBI36
NG_008964.1:g.6001G>C
NG_029706.2:g.3809C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000313511.8:c.320G>C MANE Select ENSP00000322439.3:p.Arg107Pro
ENST00000313511.7:c.320G>C ENSP00000322439.3:p.Arg107Pro
ENST00000565012.1:c.248-353G>C ENSP00000455007.1:n.248-353G>C
NM_003321.4:c.320G>C NP_003312.3:p.Arg107Pro
XM_011545928.1:c.320G>C XP_011544230.1:p.Arg107Pro
NM_001365360.1:c.320G>C NP_001352289.1:p.Arg107Pro
NM_003321.5:c.320G>C MANE Select NP_003312.3:p.Arg107Pro
NM_001365360.2:c.320G>C NP_001352289.1:p.Arg107Pro