Canonical Allele Identifier: CA313530321

Gene: UQCC1

Linked Data

• dbSNP Id: rs892798863
• gnomAD v3: 20-35319315-C-T
• gnomAD v4: 20-35319315-C-T
• MyVariant Identifiers: chr20:g.33907118C>T (hg19) ; chr20:g.35319315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35319315C>T , CM000682.2:g.35319315C>T	GRCh38
NC_000020.10:g.33907118C>T , CM000682.1:g.33907118C>T	GRCh37
NC_000020.9:g.33370532C>T	NCBI36
NG_021421.1:g.97828G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453855.6:c.268-4608G>A	ENSP00000390334.2:n.268-4608G>A
ENST00000374385.10:c.574-4550G>A MANE Select	ENSP00000363506.5:n.574-4550G>A
ENST00000349714.9:c.493-4550G>A	ENSP00000335364.6:n.493-4550G>A
ENST00000359226.6:c.334-4550G>A	ENSP00000352161.2:n.334-4550G>A
ENST00000374380.6:c.370-4550G>A	ENSP00000363501.2:n.370-4550G>A
ENST00000374384.6:c.574-12536G>A	ENSP00000363505.2:n.574-12536G>A
ENST00000374385.9:c.574-4550G>A	ENSP00000363506.5:n.574-4550G>A
ENST00000374394.7:c.*555-4550G>A	ENSP00000363515.3:n.*555-4550G>A
ENST00000397556.7:c.355-4550G>A	ENSP00000380688.4:n.355-4550G>A
ENST00000424405.5:c.478-4550G>A	ENSP00000399713.1:n.478-4550G>A
ENST00000438533.5:c.616-4550G>A	ENSP00000398531.1:n.616-4550G>A
ENST00000443429.5:c.*126-4550G>A	ENSP00000416246.1:n.*126-4550G>A
ENST00000453855.5:c.265-4608G>A	ENSP00000390334.1:n.265-4608G>A
ENST00000457259.5:c.292-4550G>A
ENST00000497717.5:n.64-4550G>A
NM_001184977.1:c.370-4550G>A	NP_001171906.1:n.370-4550G>A
NM_018244.4:c.574-4550G>A	NP_060714.3:n.574-4550G>A
NM_199487.2:c.574-12536G>A	NP_955781.2:n.574-12536G>A
XM_011528877.1:c.616-4550G>A	XP_011527179.1:n.616-4550G>A
XM_011528878.1:c.478-4550G>A	XP_011527180.1:n.478-4550G>A
XM_011528879.1:c.436-4550G>A	XP_011527181.1:n.436-4550G>A
XM_011528880.1:c.436-4550G>A	XP_011527182.1:n.436-4550G>A
XM_011528881.1:c.277-4550G>A	XP_011527183.1:n.277-4550G>A
XM_011528882.1:c.172-4550G>A	XP_011527184.1:n.172-4550G>A
XM_011528883.1:c.172-4550G>A	XP_011527185.1:n.172-4550G>A
XM_011528884.1:c.172-4550G>A	XP_011527186.1:n.172-4550G>A
XM_011528878.2:c.478-4550G>A	XP_011527180.1:n.478-4550G>A
XM_011528880.2:c.436-4550G>A	XP_011527182.1:n.436-4550G>A
XM_011528881.3:c.277-4550G>A	XP_011527183.1:n.277-4550G>A
XM_011528882.2:c.172-4550G>A	XP_011527184.1:n.172-4550G>A
XM_011528883.2:c.172-4550G>A	XP_011527185.1:n.172-4550G>A
XM_011528884.2:c.172-4550G>A	XP_011527186.1:n.172-4550G>A
NM_018244.5:c.574-4550G>A MANE Select	NP_060714.3:n.574-4550G>A
NM_001184977.2:c.370-4550G>A	NP_001171906.1:n.370-4550G>A
NM_199487.3:c.574-12536G>A	NP_955781.2:n.574-12536G>A