Canonical Allele Identifier: CA395417544

Gene: TUFM

Linked Data

• MyVariant Identifiers: chr16:g.28856304G>A (hg19) ; chr16:g.28844983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844983G>A , CM000678.2:g.28844983G>A	GRCh38
NC_000016.9:g.28856304G>A , CM000678.1:g.28856304G>A	GRCh37
NC_000016.8:g.28763805G>A	NCBI36
NG_008964.1:g.6426C>T
NG_029706.2:g.3384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.487C>T MANE Select	ENSP00000322439.3:p.Gln163Ter
ENST00000313511.7:c.487C>T	ENSP00000322439.3:p.Gln163Ter
ENST00000561644.1:n.25C>T
ENST00000565012.1:c.*14C>T	ENSP00000455007.1:n.*14C>T
NM_003321.4:c.487C>T	NP_003312.3:p.Gln163Ter
XM_011545928.1:c.487C>T	XP_011544230.1:p.Gln163Ter
NM_001365360.1:c.487C>T	NP_001352289.1:p.Gln163Ter
NM_003321.5:c.487C>T MANE Select	NP_003312.3:p.Gln163Ter
NM_001365360.2:c.487C>T	NP_001352289.1:p.Gln163Ter