Canonical Allele Identifier: CA2581497019
Gene: UQCRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868775A>T , CM000667.2:g.132868775A>T GRCh38
NC_000005.9:g.132204467A>T , CM000667.1:g.132204467A>T GRCh37
NC_000005.8:g.132232366A>T NCBI36
NG_012221.1:g.7149A>T
NG_047051.1:g.3110T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1193A>T MANE Select ENSP00000367939.3:n.*1193A>T
NM_014402.4:c.*1193A>T NP_055217.2:n.*1193A>T
NM_014402.5:c.*1193A>T MANE Select NP_055217.2:n.*1193A>T