Canonical Allele Identifier: CA127292414
Gene: UQCRQ HGNC NCBI

Linked Data

ClinVar Variation Id: 905151
ClinVar RCV Id: RCV001153503
dbSNP Id: rs868237609
gnomAD v2: 5-132204451-G-A
gnomAD v3: 5-132868759-G-A
gnomAD v4: 5-132868759-G-A
MyVariant Identifiers: chr5:g.132204451G>A (hg19) chr5:g.132868759G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868759G>A , CM000667.2:g.132868759G>A GRCh38
NC_000005.9:g.132204451G>A , CM000667.1:g.132204451G>A GRCh37
NC_000005.8:g.132232350G>A NCBI36
NG_012221.1:g.7133G>A
NG_047051.1:g.3126C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378670.8:c.*1177G>A MANE Select ENSP00000367939.3:n.*1177G>A
NM_014402.4:c.*1177G>A NP_055217.2:n.*1177G>A
NM_014402.5:c.*1177G>A MANE Select NP_055217.2:n.*1177G>A
Search 100 bp 5'
Search 100 bp 3'