Canonical Allele Identifier: CA9431893

Gene: TIMM50

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39486329T>C , CM000681.2:g.39486329T>C	GRCh38
NC_000019.9:g.39976969T>C , CM000681.1:g.39976969T>C	GRCh37
NC_000019.8:g.44668809T>C	NCBI36
NG_051245.1:g.10918T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001001563.5:c.597+38T>C MANE Select	NP_001001563.2:n.597+38T>C
ENST00000607714.6:c.597+38T>C MANE Select	ENSP00000475531.1:n.597+38T>C
NM_001001563.1:c.906+38T>C	NP_001001563.1:n.906+38T>C
NM_001001563.4:c.597+38T>C	NP_001001563.2:n.597+38T>C
NM_001329559.1:c.258+38T>C	NP_001316488.1:n.258+38T>C
NM_001329559.2:c.258+38T>C	NP_001316488.1:n.258+38T>C
ENST00000314349.8:c.906+38T>C	ENSP00000318115.3:n.906+38T>C
ENST00000544017.5:c.906+38T>C	ENSP00000445806.2:n.906+38T>C
ENST00000594583.2:c.581+38T>C
ENST00000595961.5:n.701+38T>C
ENST00000597666.5:c.387+38T>C	ENSP00000472723.2:n.387+38T>C
ENST00000599733.5:c.570+38T>C
ENST00000599794.5:c.109-1732T>C	ENSP00000472524.2:n.109-1732T>C
ENST00000601358.5:c.*112+38T>C	ENSP00000472476.2:n.*112+38T>C
ENST00000601403.5:c.543+38T>C	ENSP00000472184.2:n.543+38T>C
ENST00000602028.5:c.514+38T>C
ENST00000602265.5:c.464+38T>C
ENST00000607714.5:c.597+38T>C	ENSP00000475531.1:n.597+38T>C
XM_011527491.1:c.561+38T>C	XP_011525793.1:n.561+38T>C
XM_011527491.3:c.561+38T>C	XP_011525793.1:n.561+38T>C