Canonical Allele Identifier: CA405790432

Gene: TIMM50

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39488622C>G , CM000681.2:g.39488622C>G	GRCh38
NC_000019.9:g.39979262C>G , CM000681.1:g.39979262C>G	GRCh37
NC_000019.8:g.44671102C>G	NCBI36
NG_051245.1:g.13211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607714.6:c.937C>G MANE Select	ENSP00000475531.1:p.Gln313Glu
ENST00000314349.8:c.1246C>G	ENSP00000318115.3:p.Gln416Glu
ENST00000544017.5:c.1246C>G	ENSP00000445806.2:p.Gln416Glu
ENST00000595961.5:n.1041C>G
ENST00000597552.1:n.296C>G
ENST00000599794.5:c.349C>G	ENSP00000472524.2:p.Gln117Glu
ENST00000601252.1:c.188C>G
ENST00000601358.5:c.*452C>G	ENSP00000472476.2:n.*452C>G
ENST00000607714.5:c.937C>G	ENSP00000475531.1:p.Gln313Glu
NM_001001563.1:c.1246C>G	NP_001001563.1:p.Gln416Glu
XM_011527491.1:c.901C>G	XP_011525793.1:p.Gln301Glu
NM_001001563.4:c.937C>G	NP_001001563.2:p.Gln313Glu
NM_001329559.1:c.598C>G	NP_001316488.1:p.Gln200Glu
XM_011527491.3:c.901C>G	XP_011525793.1:p.Gln301Glu
NM_001001563.5:c.937C>G MANE Select	NP_001001563.2:p.Gln313Glu
NM_001329559.2:c.598C>G	NP_001316488.1:p.Gln200Glu