Canonical Allele Identifier: CA4815815

Gene: UQCRB

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96231113G>A , CM000670.2:g.96231113G>A	GRCh38
NC_000008.10:g.97243341G>A , CM000670.1:g.97243341G>A	GRCh37
NC_000008.9:g.97312517G>A	NCBI36
NG_008237.1:g.9522C>T
NG_008237.2:g.9420C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006294.5:c.278C>T MANE Select	NP_006285.1:p.Pro93Leu
ENST00000287022.10:c.278C>T MANE Select	ENSP00000287022.5:p.Pro93Leu
NM_001199975.2:c.182C>T	NP_001186904.1:p.Pro61Leu
NM_001199975.3:c.182C>T	NP_001186904.1:p.Pro61Leu
NM_001254752.1:c.415C>T	NP_001241681.1:p.Arg139Cys
NM_001254752.2:c.415C>T	NP_001241681.1:p.Arg139Cys
NM_006294.4:c.278C>T	NP_006285.1:p.Pro93Leu
NR_045639.1:n.672C>T
NR_045639.2:n.583C>T
ENST00000287022.9:c.278C>T	ENSP00000287022.5:p.Pro93Leu
ENST00000517523.1:c.*41C>T	ENSP00000429787.1:n.*41C>T
ENST00000517603.5:c.*311C>T	ENSP00000430672.1:n.*311C>T
ENST00000518406.5:c.415C>T	ENSP00000430494.1:p.Arg139Cys
ENST00000518876.1:n.3791C>T
ENST00000521036.5:c.*82C>T	ENSP00000427862.1:n.*82C>T
ENST00000521948.1:n.947C>T
ENST00000523920.1:c.*175C>T	ENSP00000430560.1:n.*175C>T