Canonical Allele Identifier: CA2632531583

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845619-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845619C>A , CM000678.2:g.28845619C>A	GRCh38
NC_000016.9:g.28856940C>A , CM000678.1:g.28856940C>A	GRCh37
NC_000016.8:g.28764441C>A	NCBI36
NG_008964.1:g.5790G>T
NG_029706.2:g.4020C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-139G>T MANE Select	ENSP00000322439.3:n.248-139G>T
ENST00000313511.7:c.248-139G>T	ENSP00000322439.3:n.248-139G>T
ENST00000565012.1:c.247+293G>T	ENSP00000455007.1:n.247+293G>T
NM_003321.4:c.248-139G>T	NP_003312.3:n.248-139G>T
XM_011545928.1:c.248-139G>T	XP_011544230.1:n.248-139G>T
NM_001365360.1:c.248-139G>T	NP_001352289.1:n.248-139G>T
NM_003321.5:c.248-139G>T MANE Select	NP_003312.3:n.248-139G>T
NM_001365360.2:c.248-139G>T	NP_001352289.1:n.248-139G>T