Canonical Allele Identifier: CA2768445548
Gene: UQCRQ HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868698C>A , CM000667.2:g.132868698C>A GRCh38
NC_000005.9:g.132204390C>A , CM000667.1:g.132204390C>A GRCh37
NC_000005.8:g.132232289C>A NCBI36
NG_012221.1:g.7072C>A
NG_047051.1:g.3187G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1116C>A MANE Select ENSP00000367939.3:n.*1116C>A
NM_014402.4:c.*1116C>A NP_055217.2:n.*1116C>A
NM_014402.5:c.*1116C>A MANE Select NP_055217.2:n.*1116C>A
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