Canonical Allele Identifier: CA494484838

Gene: TUFM

Linked Data

• dbSNP Id: rs1488198085
• MyVariant Identifiers: chr16:g.28856665T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845344T>A , CM000678.2:g.28845344T>A	GRCh38
NC_000016.9:g.28856665T>A , CM000678.1:g.28856665T>A	GRCh37
NC_000016.8:g.28764166T>A	NCBI36
NG_008964.1:g.6065A>T
NG_029706.2:g.3745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.384A>T MANE Select	ENSP00000322439.3:p.Thr128=
ENST00000313511.7:c.384A>T	ENSP00000322439.3:p.Thr128=
ENST00000565012.1:c.248-289A>T	ENSP00000455007.1:n.248-289A>T
NM_003321.4:c.384A>T	NP_003312.3:p.Thr128=
XM_011545928.1:c.384A>T	XP_011544230.1:p.Thr128=
NM_001365360.1:c.384A>T	NP_001352289.1:p.Thr128=
NM_003321.5:c.384A>T MANE Select	NP_003312.3:p.Thr128=
NM_001365360.2:c.384A>T	NP_001352289.1:p.Thr128=