Canonical Allele Identifier: CA804030106
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1230220466
gnomAD v3: 5-132868768-T-C
gnomAD v4: 5-132868768-T-C
MyVariant Identifiers: chr5:g.132204460T>C (hg19) chr5:g.132868768T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868768T>C , CM000667.2:g.132868768T>C GRCh38
NC_000005.9:g.132204460T>C , CM000667.1:g.132204460T>C GRCh37
NC_000005.8:g.132232359T>C NCBI36
NG_012221.1:g.7142T>C
NG_047051.1:g.3117A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378670.8:c.*1186T>C MANE Select ENSP00000367939.3:n.*1186T>C
NM_014402.4:c.*1186T>C NP_055217.2:n.*1186T>C
NM_014402.5:c.*1186T>C MANE Select NP_055217.2:n.*1186T>C
Search 100 bp 5'
Search 100 bp 3'