Canonical Allele Identifier: CA212930414

Gene: NDUFB8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100523884C>T , CM000672.2:g.100523884C>T	GRCh38
NC_000010.10:g.102283641C>T , CM000672.1:g.102283641C>T	GRCh37
NC_000010.9:g.102273631C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299166.9:c.514G>A MANE Select	ENSP00000299166.4:p.Gly172Ser
ENST00000299166.8:c.514G>A	ENSP00000299166.4:p.Gly172Ser
ENST00000370322.5:c.421G>A	ENSP00000359346.1:p.Gly141Ser
ENST00000464651.1:n.246G>A
ENST00000527595.5:c.312+3091G>A	ENSP00000455090.1:n.312+3091G>A
ENST00000528174.5:c.*110+3091G>A	ENSP00000456355.1:n.*110+3091G>A
ENST00000529568.5:c.468+2515G>A	ENSP00000455597.1:n.468+2515G>A
ENST00000533549.1:c.*266+2515G>A	ENSP00000456407.1:n.*266+2515G>A
ENST00000557395.5:c.*112+93G>A	ENSP00000456832.1:n.*112+93G>A
NM_001284367.1:c.*205G>A	NP_001271296.1:n.*205G>A
NM_001284368.1:c.421G>A	NP_001271297.1:p.Gly141Ser
NM_005004.3:c.514G>A	NP_004995.1:p.Gly172Ser
NM_005004.4:c.514G>A MANE Select	NP_004995.1:p.Gly172Ser
NM_001284367.2:c.*205G>A	NP_001271296.1:n.*205G>A