Canonical Allele Identifier: CA2768445551
Gene: UQCRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868802dup , CM000667.2:g.132868802dup GRCh38
NC_000005.9:g.132204494dup , CM000667.1:g.132204494dup GRCh37
NC_000005.8:g.132232393dup NCBI36
NG_012221.1:g.7176dup
NG_047051.1:g.3085dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378670.8:c.*1220dup MANE Select ENSP00000367939.3:n.*1220dup
NM_014402.4:c.*1220dup NP_055217.2:n.*1220dup
NM_014402.5:c.*1220dup MANE Select NP_055217.2:n.*1220dup