Canonical Allele Identifier: CA1583356690
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1759703400

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868683C>T , CM000667.2:g.132868683C>T GRCh38
NC_000005.9:g.132204375C>T , CM000667.1:g.132204375C>T GRCh37
NC_000005.8:g.132232274C>T NCBI36
NG_012221.1:g.7057C>T
NG_047051.1:g.3202G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378670.8:c.*1101C>T MANE Select ENSP00000367939.3:n.*1101C>T
NM_014402.4:c.*1101C>T NP_055217.2:n.*1101C>T
NM_014402.5:c.*1101C>T MANE Select NP_055217.2:n.*1101C>T