Canonical Allele Identifier: CA494484773

Gene: TUFM

Linked Data

• gnomAD v4: 16-28844981-C-T
• MyVariant Identifiers: chr16:g.28856302C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844981C>T , CM000678.2:g.28844981C>T	GRCh38
NC_000016.9:g.28856302C>T , CM000678.1:g.28856302C>T	GRCh37
NC_000016.8:g.28763803C>T	NCBI36
NG_008964.1:g.6428G>A
NG_029706.2:g.3382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.489G>A MANE Select	ENSP00000322439.3:p.Gln163=
ENST00000313511.7:c.489G>A	ENSP00000322439.3:p.Gln163=
ENST00000561644.1:n.27G>A
ENST00000565012.1:c.*16G>A	ENSP00000455007.1:n.*16G>A
NM_003321.4:c.489G>A	NP_003312.3:p.Gln163=
XM_011545928.1:c.489G>A	XP_011544230.1:p.Gln163=
NM_001365360.1:c.489G>A	NP_001352289.1:p.Gln163=
NM_003321.5:c.489G>A MANE Select	NP_003312.3:p.Gln163=
NM_001365360.2:c.489G>A	NP_001352289.1:p.Gln163=