Canonical Allele Identifier: CA5650142

Gene: NDUFB8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100526413C>G , CM000672.2:g.100526413C>G	GRCh38
NC_000010.10:g.102286170C>G , CM000672.1:g.102286170C>G	GRCh37
NC_000010.9:g.102276160C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005004.4:c.454G>C MANE Select	NP_004995.1:p.Val152Leu
ENST00000299166.9:c.454G>C MANE Select	ENSP00000299166.4:p.Val152Leu
NM_001284367.1:c.454G>C	NP_001271296.1:p.Val152Leu
NM_001284367.2:c.454G>C	NP_001271296.1:p.Val152Leu
NM_001284368.1:c.361G>C	NP_001271297.1:p.Val121Leu
NM_005004.3:c.454G>C	NP_004995.1:p.Val152Leu
ENST00000299166.8:c.454G>C	ENSP00000299166.4:p.Val152Leu
ENST00000370320.4:c.454G>C	ENSP00000359344.4:p.Val152Leu
ENST00000370322.5:c.361G>C	ENSP00000359346.1:p.Val121Leu
ENST00000464651.1:n.186G>C
ENST00000466088.5:n.465G>C
ENST00000527595.5:c.312+562G>C	ENSP00000455090.1:n.312+562G>C
ENST00000528174.5:c.*110+562G>C	ENSP00000456355.1:n.*110+562G>C
ENST00000528425.5:c.*252G>C	ENSP00000434072.1:n.*252G>C
ENST00000529568.5:c.454G>C	ENSP00000455597.1:p.Val152Leu
ENST00000533549.1:c.*252G>C	ENSP00000456407.1:n.*252G>C
ENST00000557395.5:c.454G>C	ENSP00000456832.1:p.Val152Leu