Canonical Allele Identifier: CA21926454
Gene: UQCRH HGNC NCBI

Linked Data

dbSNP Id: rs1015305089
gnomAD v3: 1-46314030-T-A
gnomAD v4: 1-46314030-T-A
MyVariant Identifiers: chr1:g.46779702T>A (hg19) chr1:g.46314030T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46314030T>A , CM000663.2:g.46314030T>A GRCh38
NC_000001.10:g.46779702T>A , CM000663.1:g.46779702T>A GRCh37
NC_000001.9:g.46552289T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000311672.10:c.244-2522T>A MANE Select ENSP00000309565.5:n.244-2522T>A
ENST00000311672.9:c.244-2522T>A ENSP00000309565.5:n.244-2522T>A
ENST00000460947.1:n.397-2522T>A
ENST00000489056.5:c.*83-2522T>A ENSP00000484857.1:n.*83-2522T>A
ENST00000496387.5:c.*83-2522T>A ENSP00000477826.1:n.*83-2522T>A
NM_001297565.1:c.226-2522T>A NP_001284494.1:n.226-2522T>A
NM_001297566.1:c.217-2522T>A NP_001284495.1:n.217-2522T>A
NM_006004.3:c.244-2522T>A NP_005995.2:n.244-2522T>A
NM_006004.4:c.244-2522T>A MANE Select NP_005995.2:n.244-2522T>A
NM_001297565.2:c.226-2522T>A NP_001284494.1:n.226-2522T>A
NM_001297566.2:c.217-2522T>A NP_001284495.1:n.217-2522T>A
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