Canonical Allele Identifier: CA395417589

Gene: TUFM

Linked Data

• gnomAD v4: 16-28844992-G-T
• MyVariant Identifiers: chr16:g.28856313G>T (hg19) ; chr16:g.28844992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844992G>T , CM000678.2:g.28844992G>T	GRCh38
NC_000016.9:g.28856313G>T , CM000678.1:g.28856313G>T	GRCh37
NC_000016.8:g.28763814G>T	NCBI36
NG_008964.1:g.6417C>A
NG_029706.2:g.3393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.478C>A MANE Select	ENSP00000322439.3:p.Pro160Thr
ENST00000313511.7:c.478C>A	ENSP00000322439.3:p.Pro160Thr
ENST00000561644.1:n.16C>A
ENST00000565012.1:c.*5C>A	ENSP00000455007.1:n.*5C>A
NM_003321.4:c.478C>A	NP_003312.3:p.Pro160Thr
XM_011545928.1:c.478C>A	XP_011544230.1:p.Pro160Thr
NM_001365360.1:c.478C>A	NP_001352289.1:p.Pro160Thr
NM_003321.5:c.478C>A MANE Select	NP_003312.3:p.Pro160Thr
NM_001365360.2:c.478C>A	NP_001352289.1:p.Pro160Thr