Canonical Allele Identifier: CA2732137225

Gene: TUFM

Linked Data

• dbSNP Id: rs2152147837

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845686C>G , CM000678.2:g.28845686C>G	GRCh38
NC_000016.9:g.28857007C>G , CM000678.1:g.28857007C>G	GRCh37
NC_000016.8:g.28764508C>G	NCBI36
NG_008964.1:g.5723G>C
NG_029706.2:g.4087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-206G>C MANE Select	ENSP00000322439.3:n.248-206G>C
ENST00000313511.7:c.248-206G>C	ENSP00000322439.3:n.248-206G>C
ENST00000565012.1:c.247+226G>C	ENSP00000455007.1:n.247+226G>C
NM_003321.4:c.248-206G>C	NP_003312.3:n.248-206G>C
XM_011545928.1:c.248-206G>C	XP_011544230.1:n.248-206G>C
NM_001365360.1:c.248-206G>C	NP_001352289.1:n.248-206G>C
NM_003321.5:c.248-206G>C MANE Select	NP_003312.3:n.248-206G>C
NM_001365360.2:c.248-206G>C	NP_001352289.1:n.248-206G>C