Canonical Allele Identifier: CA395417483

Gene: TUFM

Linked Data

• ClinVar Variation Id: 1709965
• ClinVar RCV Id: RCV002290307
• MyVariant Identifiers: chr16:g.28856289A>T (hg19) ; chr16:g.28844968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844968A>T , CM000678.2:g.28844968A>T	GRCh38
NC_000016.9:g.28856289A>T , CM000678.1:g.28856289A>T	GRCh37
NC_000016.8:g.28763790A>T	NCBI36
NG_008964.1:g.6441T>A
NG_029706.2:g.3369A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.502T>A MANE Select	ENSP00000322439.3:p.Leu168Ile
ENST00000313511.7:c.502T>A	ENSP00000322439.3:p.Leu168Ile
ENST00000561644.1:n.40T>A
ENST00000565012.1:c.*29T>A	ENSP00000455007.1:n.*29T>A
NM_003321.4:c.502T>A	NP_003312.3:p.Leu168Ile
XM_011545928.1:c.502T>A	XP_011544230.1:p.Leu168Ile
NM_001365360.1:c.502T>A	NP_001352289.1:p.Leu168Ile
NM_003321.5:c.502T>A MANE Select	NP_003312.3:p.Leu168Ile
NM_001365360.2:c.502T>A	NP_001352289.1:p.Leu168Ile