Canonical Allele Identifier: CA395417412

Gene: TUFM

Linked Data

• MyVariant Identifiers: chr16:g.28856272C>A (hg19) ; chr16:g.28844951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844951C>A , CM000678.2:g.28844951C>A	GRCh38
NC_000016.9:g.28856272C>A , CM000678.1:g.28856272C>A	GRCh37
NC_000016.8:g.28763773C>A	NCBI36
NG_008964.1:g.6458G>T
NG_029706.2:g.3352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.519G>T MANE Select	ENSP00000322439.3:p.Gln173His
ENST00000313511.7:c.519G>T	ENSP00000322439.3:p.Gln173His
ENST00000561644.1:n.57G>T
ENST00000565012.1:c.*46G>T	ENSP00000455007.1:n.*46G>T
NM_003321.4:c.519G>T	NP_003312.3:p.Gln173His
XM_011545928.1:c.519G>T	XP_011544230.1:p.Gln173His
NM_001365360.1:c.519G>T	NP_001352289.1:p.Gln173His
NM_003321.5:c.519G>T MANE Select	NP_003312.3:p.Gln173His
NM_001365360.2:c.519G>T	NP_001352289.1:p.Gln173His