Canonical Allele Identifier: CA1583356725
Gene: UQCRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868729C= , CM000667.2:g.132868729C= GRCh38
NC_000005.9:g.132204421C= , CM000667.1:g.132204421C= GRCh37
NC_000005.8:g.132232320C= NCBI36
NG_012221.1:g.7103C=
NG_047051.1:g.3156G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1147C= MANE Select ENSP00000367939.3:n.*1147C=
NM_014402.4:c.*1147C= NP_055217.2:n.*1147C=
NM_014402.5:c.*1147C= MANE Select NP_055217.2:n.*1147C=