Canonical Allele Identifier: CA395417491
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844971G>T , CM000678.2:g.28844971G>T GRCh38
NC_000016.9:g.28856292G>T , CM000678.1:g.28856292G>T GRCh37
NC_000016.8:g.28763793G>T NCBI36
NG_008964.1:g.6438C>A
NG_029706.2:g.3372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.499C>A MANE Select ENSP00000322439.3:p.His167Asn
ENST00000313511.7:c.499C>A ENSP00000322439.3:p.His167Asn
ENST00000561644.1:n.37C>A
ENST00000565012.1:c.*26C>A ENSP00000455007.1:n.*26C>A
NM_003321.4:c.499C>A NP_003312.3:p.His167Asn
XM_011545928.1:c.499C>A XP_011544230.1:p.His167Asn
NM_001365360.1:c.499C>A NP_001352289.1:p.His167Asn
NM_003321.5:c.499C>A MANE Select NP_003312.3:p.His167Asn
NM_001365360.2:c.499C>A NP_001352289.1:p.His167Asn