Canonical Allele Identifier: CA14642676

Gene: TIMM50

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39489497G>A , CM000681.2:g.39489497G>A	GRCh38
NC_000019.9:g.39980137G>A , CM000681.1:g.39980137G>A	GRCh37
NC_000019.8:g.44671977G>A	NCBI36
NG_051245.1:g.14086G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001001563.5:c.961-222G>A MANE Select	NP_001001563.2:n.961-222G>A
ENST00000607714.6:c.961-222G>A MANE Select	ENSP00000475531.1:n.961-222G>A
NM_001001563.1:c.1270-222G>A	NP_001001563.1:n.1270-222G>A
NM_001001563.4:c.961-222G>A	NP_001001563.2:n.961-222G>A
NM_001329559.1:c.622-222G>A	NP_001316488.1:n.622-222G>A
NM_001329559.2:c.622-222G>A	NP_001316488.1:n.622-222G>A
ENST00000314349.8:c.1270-222G>A	ENSP00000318115.3:n.1270-222G>A
ENST00000544017.5:c.1270-222G>A	ENSP00000445806.2:n.1270-222G>A
ENST00000595961.5:n.1065-222G>A
ENST00000597552.1:n.320-222G>A
ENST00000599794.5:c.373-222G>A	ENSP00000472524.2:n.373-222G>A
ENST00000601252.1:c.212-222G>A
ENST00000601358.5:c.*476-222G>A	ENSP00000472476.2:n.*476-222G>A
ENST00000607714.5:c.961-222G>A	ENSP00000475531.1:n.961-222G>A
XM_011527491.1:c.925-222G>A	XP_011525793.1:n.925-222G>A
XM_011527491.3:c.925-222G>A	XP_011525793.1:n.925-222G>A