Canonical Allele Identifier: CA1583356679
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1699682477

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868658C>T , CM000667.2:g.132868658C>T GRCh38
NC_000005.9:g.132204350C>T , CM000667.1:g.132204350C>T GRCh37
NC_000005.8:g.132232249C>T NCBI36
NG_012221.1:g.7032C>T
NG_047051.1:g.3227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1076C>T MANE Select ENSP00000367939.3:n.*1076C>T
NM_014402.4:c.*1076C>T NP_055217.2:n.*1076C>T
NM_014402.5:c.*1076C>T MANE Select NP_055217.2:n.*1076C>T