Canonical Allele Identifier: CA395417432
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844954T>G , CM000678.2:g.28844954T>G GRCh38
NC_000016.9:g.28856275T>G , CM000678.1:g.28856275T>G GRCh37
NC_000016.8:g.28763776T>G NCBI36
NG_008964.1:g.6455A>C
NG_029706.2:g.3355T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.516A>C MANE Select ENSP00000322439.3:p.Arg172Ser
ENST00000313511.7:c.516A>C ENSP00000322439.3:p.Arg172Ser
ENST00000561644.1:n.54A>C
ENST00000565012.1:c.*43A>C ENSP00000455007.1:n.*43A>C
NM_003321.4:c.516A>C NP_003312.3:p.Arg172Ser
XM_011545928.1:c.516A>C XP_011544230.1:p.Arg172Ser
NM_001365360.1:c.516A>C NP_001352289.1:p.Arg172Ser
NM_003321.5:c.516A>C MANE Select NP_003312.3:p.Arg172Ser
NM_001365360.2:c.516A>C NP_001352289.1:p.Arg172Ser