Canonical Allele Identifier: CA395417540
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1961898216

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844981C>G , CM000678.2:g.28844981C>G GRCh38
NC_000016.9:g.28856302C>G , CM000678.1:g.28856302C>G GRCh37
NC_000016.8:g.28763803C>G NCBI36
NG_008964.1:g.6428G>C
NG_029706.2:g.3382C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.489G>C MANE Select ENSP00000322439.3:p.Gln163His
ENST00000313511.7:c.489G>C ENSP00000322439.3:p.Gln163His
ENST00000561644.1:n.27G>C
ENST00000565012.1:c.*16G>C ENSP00000455007.1:n.*16G>C
NM_003321.4:c.489G>C NP_003312.3:p.Gln163His
XM_011545928.1:c.489G>C XP_011544230.1:p.Gln163His
NM_001365360.1:c.489G>C NP_001352289.1:p.Gln163His
NM_003321.5:c.489G>C MANE Select NP_003312.3:p.Gln163His
NM_001365360.2:c.489G>C NP_001352289.1:p.Gln163His