Canonical Allele Identifier: CA7985624

Gene: TUFM

Linked Data

• dbSNP Id: rs780352945
• ExAC: 16:28856284 T / G
• gnomAD v2: 16-28856284-T-G
• gnomAD v4: 16-28844963-T-G
• MyVariant Identifiers: chr16:g.28856284T>G (hg19) ; chr16:g.28844963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844963T>G , CM000678.2:g.28844963T>G	GRCh38
NC_000016.9:g.28856284T>G , CM000678.1:g.28856284T>G	GRCh37
NC_000016.8:g.28763785T>G	NCBI36
NG_008964.1:g.6446A>C
NG_029706.2:g.3364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.507A>C MANE Select	ENSP00000322439.3:p.Leu169Phe
ENST00000313511.7:c.507A>C	ENSP00000322439.3:p.Leu169Phe
ENST00000561644.1:n.45A>C
ENST00000565012.1:c.*34A>C	ENSP00000455007.1:n.*34A>C
NM_003321.4:c.507A>C	NP_003312.3:p.Leu169Phe
XM_011545928.1:c.507A>C	XP_011544230.1:p.Leu169Phe
NM_001365360.1:c.507A>C	NP_001352289.1:p.Leu169Phe
NM_003321.5:c.507A>C MANE Select	NP_003312.3:p.Leu169Phe
NM_001365360.2:c.507A>C	NP_001352289.1:p.Leu169Phe