Canonical Allele Identifier: CA1081664201
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1759705349
gnomAD v3: 5-132868769-GT-G
gnomAD v4: 5-132868769-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868773del , CM000667.2:g.132868773del GRCh38
NC_000005.9:g.132204465del , CM000667.1:g.132204465del GRCh37
NC_000005.8:g.132232364del NCBI36
NG_012221.1:g.7147del
NG_047051.1:g.3115del

Transcript Alleles

HGVS Amino-acid change
ENST00000378670.8:c.*1191del MANE Select ENSP00000367939.3:n.*1191del
NM_014402.4:c.*1191del NP_055217.2:n.*1191del
NM_014402.5:c.*1191del MANE Select NP_055217.2:n.*1191del
Search 100 bp 5'
Search 100 bp 3'