Canonical Allele Identifier: CA313530314

Gene: UQCC1

Linked Data

• dbSNP Id: rs560358069
• gnomAD v3: 20-35319284-A-G
• gnomAD v4: 20-35319284-A-G
• MyVariant Identifiers: chr20:g.33907087A>G (hg19) ; chr20:g.35319284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35319284A>G , CM000682.2:g.35319284A>G	GRCh38
NC_000020.10:g.33907087A>G , CM000682.1:g.33907087A>G	GRCh37
NC_000020.9:g.33370501A>G	NCBI36
NG_021421.1:g.97859T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453855.6:c.268-4577T>C	ENSP00000390334.2:n.268-4577T>C
ENST00000374385.10:c.574-4519T>C MANE Select	ENSP00000363506.5:n.574-4519T>C
ENST00000349714.9:c.493-4519T>C	ENSP00000335364.6:n.493-4519T>C
ENST00000359226.6:c.334-4519T>C	ENSP00000352161.2:n.334-4519T>C
ENST00000374380.6:c.370-4519T>C	ENSP00000363501.2:n.370-4519T>C
ENST00000374384.6:c.574-12505T>C	ENSP00000363505.2:n.574-12505T>C
ENST00000374385.9:c.574-4519T>C	ENSP00000363506.5:n.574-4519T>C
ENST00000374394.7:c.*555-4519T>C	ENSP00000363515.3:n.*555-4519T>C
ENST00000397556.7:c.355-4519T>C	ENSP00000380688.4:n.355-4519T>C
ENST00000424405.5:c.478-4519T>C	ENSP00000399713.1:n.478-4519T>C
ENST00000438533.5:c.616-4519T>C	ENSP00000398531.1:n.616-4519T>C
ENST00000443429.5:c.*126-4519T>C	ENSP00000416246.1:n.*126-4519T>C
ENST00000453855.5:c.265-4577T>C	ENSP00000390334.1:n.265-4577T>C
ENST00000457259.5:c.292-4519T>C
ENST00000497717.5:n.64-4519T>C
NM_001184977.1:c.370-4519T>C	NP_001171906.1:n.370-4519T>C
NM_018244.4:c.574-4519T>C	NP_060714.3:n.574-4519T>C
NM_199487.2:c.574-12505T>C	NP_955781.2:n.574-12505T>C
XM_011528877.1:c.616-4519T>C	XP_011527179.1:n.616-4519T>C
XM_011528878.1:c.478-4519T>C	XP_011527180.1:n.478-4519T>C
XM_011528879.1:c.436-4519T>C	XP_011527181.1:n.436-4519T>C
XM_011528880.1:c.436-4519T>C	XP_011527182.1:n.436-4519T>C
XM_011528881.1:c.277-4519T>C	XP_011527183.1:n.277-4519T>C
XM_011528882.1:c.172-4519T>C	XP_011527184.1:n.172-4519T>C
XM_011528883.1:c.172-4519T>C	XP_011527185.1:n.172-4519T>C
XM_011528884.1:c.172-4519T>C	XP_011527186.1:n.172-4519T>C
XM_011528878.2:c.478-4519T>C	XP_011527180.1:n.478-4519T>C
XM_011528880.2:c.436-4519T>C	XP_011527182.1:n.436-4519T>C
XM_011528881.3:c.277-4519T>C	XP_011527183.1:n.277-4519T>C
XM_011528882.2:c.172-4519T>C	XP_011527184.1:n.172-4519T>C
XM_011528883.2:c.172-4519T>C	XP_011527185.1:n.172-4519T>C
XM_011528884.2:c.172-4519T>C	XP_011527186.1:n.172-4519T>C
NM_018244.5:c.574-4519T>C MANE Select	NP_060714.3:n.574-4519T>C
NM_001184977.2:c.370-4519T>C	NP_001171906.1:n.370-4519T>C
NM_199487.3:c.574-12505T>C	NP_955781.2:n.574-12505T>C