Canonical Allele Identifier: CA4871480
Gene: NDUFB9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.124543125G>T , CM000670.2:g.124543125G>T GRCh38
NC_000008.10:g.125555366G>T , CM000670.1:g.125555366G>T GRCh37
NC_000008.9:g.125624547G>T NCBI36
NG_042266.1:g.9024G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005005.3:c.140G>T MANE Select NP_004996.1:p.Arg47Leu
ENST00000276689.8:c.140G>T MANE Select ENSP00000276689.3:p.Arg47Leu
NM_001278645.1:c.-29G>T NP_001265574.1:n.-29G>T
NM_001278645.2:c.-29G>T NP_001265574.1:n.-29G>T
NM_001278646.1:c.11G>T NP_001265575.1:p.Arg4Leu
NM_001278646.2:c.11G>T NP_001265575.1:p.Arg4Leu
NM_001311168.1:c.107G>T NP_001298097.1:p.Arg36Leu
NM_001311168.2:c.107G>T NP_001298097.1:p.Arg36Leu
NM_005005.2:c.140G>T NP_004996.1:p.Arg47Leu
ENST00000276689.7:c.140G>T ENSP00000276689.3:p.Arg47Leu
ENST00000517367.1:c.107G>T ENSP00000430322.1:p.Arg36Leu
ENST00000518008.5:c.140G>T ENSP00000428282.1:p.Arg47Leu
ENST00000518657.5:n.186G>T
ENST00000518657.6:n.1220G>T
ENST00000522532.5:c.140G>T ENSP00000431115.1:p.Arg47Leu
ENST00000522532.6:c.140G>T ENSP00000431115.1:p.Arg47Leu
ENST00000524241.2:n.165G>T
ENST00000606244.2:c.140G>T ENSP00000497750.1:p.Arg47Leu
ENST00000676713.1:c.138G>T ENSP00000504795.1:p.Pro46=
ENST00000677021.1:c.140G>T ENSP00000504235.1:p.Arg47Leu
ENST00000677782.1:n.159G>T
ENST00000677822.1:c.140G>T ENSP00000504813.1:p.Arg47Leu
ENST00000677950.1:c.138G>T ENSP00000504071.1:p.Pro46=