Canonical Allele Identifier: CA395417484
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844969G>C , CM000678.2:g.28844969G>C GRCh38
NC_000016.9:g.28856290G>C , CM000678.1:g.28856290G>C GRCh37
NC_000016.8:g.28763791G>C NCBI36
NG_008964.1:g.6440C>G
NG_029706.2:g.3370G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.501C>G MANE Select ENSP00000322439.3:p.His167Gln
ENST00000313511.7:c.501C>G ENSP00000322439.3:p.His167Gln
ENST00000561644.1:n.39C>G
ENST00000565012.1:c.*28C>G ENSP00000455007.1:n.*28C>G
NM_003321.4:c.501C>G NP_003312.3:p.His167Gln
XM_011545928.1:c.501C>G XP_011544230.1:p.His167Gln
NM_001365360.1:c.501C>G NP_001352289.1:p.His167Gln
NM_003321.5:c.501C>G MANE Select NP_003312.3:p.His167Gln
NM_001365360.2:c.501C>G NP_001352289.1:p.His167Gln