Canonical Allele Identifier: CA2597249027
Gene: UQCRH HGNC NCBI

Linked Data

dbSNP Id: rs2148338157
gnomAD v3: 1-46314049-T-C
gnomAD v4: 1-46314049-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46314049T>C , CM000663.2:g.46314049T>C GRCh38
NC_000001.10:g.46779721T>C , CM000663.1:g.46779721T>C GRCh37
NC_000001.9:g.46552308T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000311672.10:c.244-2503T>C MANE Select ENSP00000309565.5:n.244-2503T>C
ENST00000311672.9:c.244-2503T>C ENSP00000309565.5:n.244-2503T>C
ENST00000460947.1:n.397-2503T>C
ENST00000489056.5:c.*83-2503T>C ENSP00000484857.1:n.*83-2503T>C
ENST00000496387.5:c.*83-2503T>C ENSP00000477826.1:n.*83-2503T>C
NM_001297565.1:c.226-2503T>C NP_001284494.1:n.226-2503T>C
NM_001297566.1:c.217-2503T>C NP_001284495.1:n.217-2503T>C
NM_006004.3:c.244-2503T>C NP_005995.2:n.244-2503T>C
NM_006004.4:c.244-2503T>C MANE Select NP_005995.2:n.244-2503T>C
NM_001297565.2:c.226-2503T>C NP_001284494.1:n.226-2503T>C
NM_001297566.2:c.217-2503T>C NP_001284495.1:n.217-2503T>C
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