Canonical Allele Identifier: CA4815897

Gene: UQCRB

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96231767G>A , CM000670.2:g.96231767G>A	GRCh38
NC_000008.10:g.97243995G>A , CM000670.1:g.97243995G>A	GRCh37
NC_000008.9:g.97313171G>A	NCBI36
NG_008237.1:g.8868C>T
NG_008237.2:g.8766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287022.10:c.258+7C>T MANE Select	ENSP00000287022.5:n.258+7C>T
ENST00000287022.9:c.258+7C>T	ENSP00000287022.5:n.258+7C>T
ENST00000517523.1:c.162+7C>T	ENSP00000429787.1:n.162+7C>T
ENST00000517603.5:c.*291+7C>T	ENSP00000430672.1:n.*291+7C>T
ENST00000518406.5:c.258+7C>T	ENSP00000430494.1:n.258+7C>T
ENST00000518876.1:n.3771+7C>T
ENST00000519322.1:n.280C>T
ENST00000521036.5:c.258+7C>T	ENSP00000427862.1:n.258+7C>T
ENST00000521948.1:n.927+7C>T
ENST00000523920.1:c.258+7C>T	ENSP00000430560.1:n.258+7C>T
NM_001199975.2:c.162+7C>T	NP_001186904.1:n.162+7C>T
NM_001254752.1:c.258+7C>T	NP_001241681.1:n.258+7C>T
NM_006294.4:c.258+7C>T	NP_006285.1:n.258+7C>T
NR_045639.1:n.362+7C>T
NM_001199975.3:c.162+7C>T	NP_001186904.1:n.162+7C>T
NM_001254752.2:c.258+7C>T	NP_001241681.1:n.258+7C>T
NM_006294.5:c.258+7C>T MANE Select	NP_006285.1:n.258+7C>T
NR_045639.2:n.273+7C>T