Canonical Allele Identifier: CA1583356687
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1759703323
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868672C>A , CM000667.2:g.132868672C>A GRCh38
NC_000005.9:g.132204364C>A , CM000667.1:g.132204364C>A GRCh37
NC_000005.8:g.132232263C>A NCBI36
NG_012221.1:g.7046C>A
NG_047051.1:g.3213G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1090C>A MANE Select ENSP00000367939.3:n.*1090C>A
NM_014402.4:c.*1090C>A NP_055217.2:n.*1090C>A
NM_014402.5:c.*1090C>A MANE Select NP_055217.2:n.*1090C>A
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