Canonical Allele Identifier: CA4815813

Gene: UQCRB

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96231112C>T , CM000670.2:g.96231112C>T	GRCh38
NC_000008.10:g.97243340C>T , CM000670.1:g.97243340C>T	GRCh37
NC_000008.9:g.97312516C>T	NCBI36
NG_008237.1:g.9523G>A
NG_008237.2:g.9421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287022.10:c.279G>A MANE Select	ENSP00000287022.5:p.Pro93=
ENST00000287022.9:c.279G>A	ENSP00000287022.5:p.Pro93=
ENST00000517523.1:c.*42G>A	ENSP00000429787.1:n.*42G>A
ENST00000517603.5:c.*312G>A	ENSP00000430672.1:n.*312G>A
ENST00000518406.5:c.416G>A	ENSP00000430494.1:p.Arg139His
ENST00000518876.1:n.3792G>A
ENST00000521036.5:c.*83G>A	ENSP00000427862.1:n.*83G>A
ENST00000521948.1:n.948G>A
ENST00000523920.1:c.*176G>A	ENSP00000430560.1:n.*176G>A
NM_001199975.2:c.183G>A	NP_001186904.1:p.Pro61=
NM_001254752.1:c.416G>A	NP_001241681.1:p.Arg139His
NM_006294.4:c.279G>A	NP_006285.1:p.Pro93=
NR_045639.1:n.673G>A
NM_001199975.3:c.183G>A	NP_001186904.1:p.Pro61=
NM_001254752.2:c.416G>A	NP_001241681.1:p.Arg139His
NM_006294.5:c.279G>A MANE Select	NP_006285.1:p.Pro93=
NR_045639.2:n.584G>A