Canonical Allele Identifier: CA395418352

Gene: TUFM

Linked Data

• dbSNP Id: rs1296149075
• gnomAD v2: 16-28856702-A-C
• gnomAD v4: 16-28845381-A-C
• MyVariant Identifiers: chr16:g.28856702A>C (hg19) ; chr16:g.28845381A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845381A>C , CM000678.2:g.28845381A>C	GRCh38
NC_000016.9:g.28856702A>C , CM000678.1:g.28856702A>C	GRCh37
NC_000016.8:g.28764203A>C	NCBI36
NG_008964.1:g.6028T>G
NG_029706.2:g.3782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.347T>G MANE Select	ENSP00000322439.3:p.Val116Gly
ENST00000313511.7:c.347T>G	ENSP00000322439.3:p.Val116Gly
ENST00000565012.1:c.248-326T>G	ENSP00000455007.1:n.248-326T>G
NM_003321.4:c.347T>G	NP_003312.3:p.Val116Gly
XM_011545928.1:c.347T>G	XP_011544230.1:p.Val116Gly
NM_001365360.1:c.347T>G	NP_001352289.1:p.Val116Gly
NM_003321.5:c.347T>G MANE Select	NP_003312.3:p.Val116Gly
NM_001365360.2:c.347T>G	NP_001352289.1:p.Val116Gly