Canonical Allele Identifier: CA395418022

Gene: TUFM

Linked Data

• dbSNP Id: rs1354433439
• gnomAD v2: 16-28856651-T-C
• MyVariant Identifiers: chr16:g.28856651T>C (hg19) ; chr16:g.28845330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845330T>C , CM000678.2:g.28845330T>C	GRCh38
NC_000016.9:g.28856651T>C , CM000678.1:g.28856651T>C	GRCh37
NC_000016.8:g.28764152T>C	NCBI36
NG_008964.1:g.6079A>G
NG_029706.2:g.3731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.398A>G MANE Select	ENSP00000322439.3:p.His133Arg
ENST00000313511.7:c.398A>G	ENSP00000322439.3:p.His133Arg
ENST00000565012.1:c.248-275A>G	ENSP00000455007.1:n.248-275A>G
NM_003321.4:c.398A>G	NP_003312.3:p.His133Arg
XM_011545928.1:c.398A>G	XP_011544230.1:p.His133Arg
NM_001365360.1:c.398A>G	NP_001352289.1:p.His133Arg
NM_003321.5:c.398A>G MANE Select	NP_003312.3:p.His133Arg
NM_001365360.2:c.398A>G	NP_001352289.1:p.His133Arg