Canonical Allele Identifier: CA127292441
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs558459502
gnomAD v2: 5-132204496-A-G
gnomAD v3: 5-132868804-A-G
gnomAD v4: 5-132868804-A-G
MyVariant Identifiers: chr5:g.132204496A>G (hg19) chr5:g.132868804A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868804A>G , CM000667.2:g.132868804A>G GRCh38
NC_000005.9:g.132204496A>G , CM000667.1:g.132204496A>G GRCh37
NC_000005.8:g.132232395A>G NCBI36
NG_012221.1:g.7178A>G
NG_047051.1:g.3081T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1222A>G MANE Select ENSP00000367939.3:n.*1222A>G
NM_014402.4:c.*1222A>G NP_055217.2:n.*1222A>G
NM_014402.5:c.*1222A>G MANE Select NP_055217.2:n.*1222A>G
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