Canonical Allele Identifier: CA562784275
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1232906634
gnomAD v2: 5-132204379-G-A
gnomAD v3: 5-132868687-G-A
gnomAD v4: 5-132868687-G-A
MyVariant Identifiers: chr5:g.132204379G>A (hg19) chr5:g.132868687G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868687G>A , CM000667.2:g.132868687G>A GRCh38
NC_000005.9:g.132204379G>A , CM000667.1:g.132204379G>A GRCh37
NC_000005.8:g.132232278G>A NCBI36
NG_012221.1:g.7061G>A
NG_047051.1:g.3198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1105G>A MANE Select ENSP00000367939.3:n.*1105G>A
NM_014402.4:c.*1105G>A NP_055217.2:n.*1105G>A
NM_014402.5:c.*1105G>A MANE Select NP_055217.2:n.*1105G>A
Search 100 bp 5'
Search 100 bp 3'