Canonical Allele Identifier: CA340207201

Gene: UQCRH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46316560C>A , CM000663.2:g.46316560C>A	GRCh38
NC_000001.10:g.46782232C>A , CM000663.1:g.46782232C>A	GRCh37
NC_000001.9:g.46554819C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311672.10:c.252C>A MANE Select	ENSP00000309565.5:p.His84Gln
ENST00000311672.9:c.252C>A	ENSP00000309565.5:p.His84Gln
ENST00000460947.1:n.405C>A
ENST00000489056.5:c.*91C>A	ENSP00000484857.1:n.*91C>A
ENST00000496387.5:c.*91C>A	ENSP00000477826.1:n.*91C>A
NM_001297565.1:c.234C>A	NP_001284494.1:p.His78Gln
NM_001297566.1:c.225C>A	NP_001284495.1:p.His75Gln
NM_006004.3:c.252C>A	NP_005995.2:p.His84Gln
NM_006004.4:c.252C>A MANE Select	NP_005995.2:p.His84Gln
NM_001297565.2:c.234C>A	NP_001284494.1:p.His78Gln
NM_001297566.2:c.225C>A	NP_001284495.1:p.His75Gln