Canonical Allele Identifier: CA395417443
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844959C>T , CM000678.2:g.28844959C>T GRCh38
NC_000016.9:g.28856280C>T , CM000678.1:g.28856280C>T GRCh37
NC_000016.8:g.28763781C>T NCBI36
NG_008964.1:g.6450G>A
NG_029706.2:g.3360C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.511G>A MANE Select ENSP00000322439.3:p.Ala171Thr
ENST00000313511.7:c.511G>A ENSP00000322439.3:p.Ala171Thr
ENST00000561644.1:n.49G>A
ENST00000565012.1:c.*38G>A ENSP00000455007.1:n.*38G>A
NM_003321.4:c.511G>A NP_003312.3:p.Ala171Thr
XM_011545928.1:c.511G>A XP_011544230.1:p.Ala171Thr
NM_001365360.1:c.511G>A NP_001352289.1:p.Ala171Thr
NM_003321.5:c.511G>A MANE Select NP_003312.3:p.Ala171Thr
NM_001365360.2:c.511G>A NP_001352289.1:p.Ala171Thr