Canonical Allele Identifier: CA2215862993
Gene: TUFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844949A= , CM000678.2:g.28844949A= GRCh38
NC_000016.9:g.28856270A= , CM000678.1:g.28856270A= GRCh37
NC_000016.8:g.28763771A= NCBI36
NG_008964.1:g.6460T=
NG_029706.2:g.3350A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.519+2T= MANE Select ENSP00000322439.3:n.519+2T=
ENST00000313511.7:c.519+2T= ENSP00000322439.3:n.519+2T=
ENST00000561644.1:n.57+2T=
ENST00000565012.1:c.*46+2T= ENSP00000455007.1:n.*46+2T=
NM_003321.4:c.519+2T= NP_003312.3:n.519+2T=
XM_011545928.1:c.519+2T= XP_011544230.1:n.519+2T=
NM_001365360.1:c.519+2T= NP_001352289.1:n.519+2T=
NM_003321.5:c.519+2T= MANE Select NP_003312.3:n.519+2T=
NM_001365360.2:c.519+2T= NP_001352289.1:n.519+2T=