Canonical Allele Identifier: CA2361628095

Gene: UQCC1

Linked Data

• dbSNP Id: rs6088813

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35387378C>T , CM000682.2:g.35387378C>T	GRCh38
NC_000020.10:g.33975181C>T , CM000682.1:g.33975181C>T	GRCh37
NC_000020.9:g.33438595C>T	NCBI36
NG_021421.1:g.29765G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453855.6:c.130-3245G>A	ENSP00000390334.2:n.130-3245G>A
ENST00000374385.10:c.130-3245G>A MANE Select	ENSP00000363506.5:n.130-3245G>A
ENST00000349714.9:c.130-3245G>A	ENSP00000335364.6:n.130-3245G>A
ENST00000359226.6:c.130-3245G>A	ENSP00000352161.2:n.130-3245G>A
ENST00000374380.6:c.129+6714G>A	ENSP00000363501.2:n.129+6714G>A
ENST00000374384.6:c.130-3245G>A	ENSP00000363505.2:n.130-3245G>A
ENST00000374385.9:c.130-3245G>A	ENSP00000363506.5:n.130-3245G>A
ENST00000374394.7:c.*184-3245G>A	ENSP00000363515.3:n.*184-3245G>A
ENST00000397553.6:c.130-2734G>A	ENSP00000380685.2:n.130-2734G>A
ENST00000397554.5:c.130-3245G>A	ENSP00000380686.1:n.130-3245G>A
ENST00000397556.7:c.-9-3245G>A	ENSP00000380688.4:n.-9-3245G>A
ENST00000424405.5:c.130-5353G>A	ENSP00000399713.1:n.130-5353G>A
ENST00000438533.5:c.172-3245G>A	ENSP00000398531.1:n.172-3245G>A
ENST00000443429.5:c.130-3245G>A	ENSP00000416246.1:n.130-3245G>A
ENST00000453855.5:c.127-3245G>A	ENSP00000390334.1:n.127-3245G>A
ENST00000457259.5:c.124+6714G>A
ENST00000491040.5:c.130-989G>A	ENSP00000420584.1:n.130-989G>A
ENST00000491125.5:n.143-3245G>A
ENST00000495752.1:n.207-3245G>A
NM_001184977.1:c.129+6714G>A	NP_001171906.1:n.129+6714G>A
NM_018244.4:c.130-3245G>A	NP_060714.3:n.130-3245G>A
NM_199487.2:c.130-3245G>A	NP_955781.2:n.130-3245G>A
XM_011528877.1:c.172-3245G>A	XP_011527179.1:n.172-3245G>A
XM_011528878.1:c.130-5353G>A	XP_011527180.1:n.130-5353G>A
XM_011528879.1:c.-9-3245G>A	XP_011527181.1:n.-9-3245G>A
XM_011528880.1:c.-9-3245G>A	XP_011527182.1:n.-9-3245G>A
XM_011528881.1:c.-72-5353G>A	XP_011527183.1:n.-72-5353G>A
XM_011528882.1:c.-200-3245G>A	XP_011527184.1:n.-200-3245G>A
XM_011528883.1:c.-104-5353G>A	XP_011527185.1:n.-104-5353G>A
XM_011528884.1:c.-104-5353G>A	XP_011527186.1:n.-104-5353G>A
XM_011528878.2:c.130-5353G>A	XP_011527180.1:n.130-5353G>A
XM_011528880.2:c.-9-3245G>A	XP_011527182.1:n.-9-3245G>A
XM_011528881.3:c.-72-5353G>A	XP_011527183.1:n.-72-5353G>A
XM_011528882.2:c.-200-3245G>A	XP_011527184.1:n.-200-3245G>A
XM_011528883.2:c.-104-5353G>A	XP_011527185.1:n.-104-5353G>A
XM_011528884.2:c.-104-5353G>A	XP_011527186.1:n.-104-5353G>A
NM_018244.5:c.130-3245G>A MANE Select	NP_060714.3:n.130-3245G>A
NM_001184977.2:c.129+6714G>A	NP_001171906.1:n.129+6714G>A
NM_199487.3:c.130-3245G>A	NP_955781.2:n.130-3245G>A