Canonical Allele Identifier: CA395418161

Gene: TUFM

Linked Data

• MyVariant Identifiers: chr16:g.28856669T>A (hg19) ; chr16:g.28845348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845348T>A , CM000678.2:g.28845348T>A	GRCh38
NC_000016.9:g.28856669T>A , CM000678.1:g.28856669T>A	GRCh37
NC_000016.8:g.28764170T>A	NCBI36
NG_008964.1:g.6061A>T
NG_029706.2:g.3749T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.380A>T MANE Select	ENSP00000322439.3:p.His127Leu
ENST00000313511.7:c.380A>T	ENSP00000322439.3:p.His127Leu
ENST00000565012.1:c.248-293A>T	ENSP00000455007.1:n.248-293A>T
NM_003321.4:c.380A>T	NP_003312.3:p.His127Leu
XM_011545928.1:c.380A>T	XP_011544230.1:p.His127Leu
NM_001365360.1:c.380A>T	NP_001352289.1:p.His127Leu
NM_003321.5:c.380A>T MANE Select	NP_003312.3:p.His127Leu
NM_001365360.2:c.380A>T	NP_001352289.1:p.His127Leu