Canonical Allele Identifier: CA320848

Gene: UQCRB

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96231067C>A , CM000670.2:g.96231067C>A	GRCh38
NC_000008.10:g.97243295C>A , CM000670.1:g.97243295C>A	GRCh37
NC_000008.9:g.97312471C>A	NCBI36
NG_008237.1:g.9568G>T
NG_008237.2:g.9466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287022.10:c.324G>T MANE Select	ENSP00000287022.5:p.Trp108Cys
ENST00000287022.9:c.324G>T	ENSP00000287022.5:p.Trp108Cys
ENST00000517523.1:c.*87G>T	ENSP00000429787.1:n.*87G>T
ENST00000517603.5:c.*357G>T	ENSP00000430672.1:n.*357G>T
ENST00000518406.5:c.*38G>T	ENSP00000430494.1:n.*38G>T
ENST00000518876.1:n.3837G>T
ENST00000521036.5:c.*128G>T	ENSP00000427862.1:n.*128G>T
ENST00000521948.1:n.993G>T
NM_001199975.2:c.228G>T	NP_001186904.1:p.Trp76Cys
NM_001254752.1:c.*38G>T	NP_001241681.1:n.*38G>T
NM_006294.4:c.324G>T	NP_006285.1:p.Trp108Cys
NR_045639.1:n.718G>T
NM_001199975.3:c.228G>T	NP_001186904.1:p.Trp76Cys
NM_001254752.2:c.*38G>T	NP_001241681.1:n.*38G>T
NM_006294.5:c.324G>T MANE Select	NP_006285.1:p.Trp108Cys
NR_045639.2:n.629G>T