Canonical Allele Identifier: CA2474133602
Gene: UQCRH HGNC NCBI

Linked Data

dbSNP Id: rs1661532484

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46314027G>T , CM000663.2:g.46314027G>T GRCh38
NC_000001.10:g.46779699G>T , CM000663.1:g.46779699G>T GRCh37
NC_000001.9:g.46552286G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000311672.10:c.244-2525G>T MANE Select ENSP00000309565.5:n.244-2525G>T
ENST00000311672.9:c.244-2525G>T ENSP00000309565.5:n.244-2525G>T
ENST00000460947.1:n.397-2525G>T
ENST00000489056.5:c.*83-2525G>T ENSP00000484857.1:n.*83-2525G>T
ENST00000496387.5:c.*83-2525G>T ENSP00000477826.1:n.*83-2525G>T
NM_001297565.1:c.226-2525G>T NP_001284494.1:n.226-2525G>T
NM_001297566.1:c.217-2525G>T NP_001284495.1:n.217-2525G>T
NM_006004.3:c.244-2525G>T NP_005995.2:n.244-2525G>T
NM_006004.4:c.244-2525G>T MANE Select NP_005995.2:n.244-2525G>T
NM_001297565.2:c.226-2525G>T NP_001284494.1:n.226-2525G>T
NM_001297566.2:c.217-2525G>T NP_001284495.1:n.217-2525G>T