Canonical Allele Identifier: CA360958245

Gene: UQCRQ

Linked Data

• gnomAD v4: 5-132867020-T-C
• MyVariant Identifiers: chr5:g.132202712T>C (hg19) ; chr5:g.132867020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132867020T>C , CM000667.2:g.132867020T>C	GRCh38
NC_000005.9:g.132202712T>C , CM000667.1:g.132202712T>C	GRCh37
NC_000005.8:g.132230611T>C	NCBI36
NG_012221.1:g.5394T>C
NG_047051.1:g.4865A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378670.8:c.139T>C MANE Select	ENSP00000367939.3:p.Phe47Leu
ENST00000378665.1:c.139T>C	ENSP00000367934.1:p.Phe47Leu
ENST00000378667.1:c.139T>C	ENSP00000367936.1:p.Phe47Leu
ENST00000378670.7:c.139T>C	ENSP00000367939.3:p.Phe47Leu
ENST00000480372.1:n.187T>C
ENST00000496429.1:n.46+333T>C
ENST00000498309.1:n.207T>C
NM_014402.4:c.139T>C	NP_055217.2:p.Phe47Leu
NM_014402.5:c.139T>C MANE Select	NP_055217.2:p.Phe47Leu