Canonical Allele Identifier: CA395417420

Gene: TUFM

Linked Data

• MyVariant Identifiers: chr16:g.28856273T>C (hg19) ; chr16:g.28844952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844952T>C , CM000678.2:g.28844952T>C	GRCh38
NC_000016.9:g.28856273T>C , CM000678.1:g.28856273T>C	GRCh37
NC_000016.8:g.28763774T>C	NCBI36
NG_008964.1:g.6457A>G
NG_029706.2:g.3353T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.518A>G MANE Select	ENSP00000322439.3:p.Gln173Arg
ENST00000313511.7:c.518A>G	ENSP00000322439.3:p.Gln173Arg
ENST00000561644.1:n.56A>G
ENST00000565012.1:c.*45A>G	ENSP00000455007.1:n.*45A>G
NM_003321.4:c.518A>G	NP_003312.3:p.Gln173Arg
XM_011545928.1:c.518A>G	XP_011544230.1:p.Gln173Arg
NM_001365360.1:c.518A>G	NP_001352289.1:p.Gln173Arg
NM_003321.5:c.518A>G MANE Select	NP_003312.3:p.Gln173Arg
NM_001365360.2:c.518A>G	NP_001352289.1:p.Gln173Arg