Canonical Allele Identifier: CA804030118
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1342584523
gnomAD v3: 5-132868794-A-G
gnomAD v4: 5-132868794-A-G
MyVariant Identifiers: chr5:g.132204486A>G (hg19) chr5:g.132868794A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868794A>G , CM000667.2:g.132868794A>G GRCh38
NC_000005.9:g.132204486A>G , CM000667.1:g.132204486A>G GRCh37
NC_000005.8:g.132232385A>G NCBI36
NG_012221.1:g.7168A>G
NG_047051.1:g.3091T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1212A>G MANE Select ENSP00000367939.3:n.*1212A>G
NM_014402.4:c.*1212A>G NP_055217.2:n.*1212A>G
NM_014402.5:c.*1212A>G MANE Select NP_055217.2:n.*1212A>G
Search 100 bp 5'
Search 100 bp 3'