Canonical Allele Identifier: CA4871548
Community Standard Title: NM_005005.3(NDUFB9):c.404G>A (p.Arg135Gln)
Gene: NDUFB9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.124547109G>A , CM000670.2:g.124547109G>A GRCh38
NC_000008.10:g.125559350G>A , CM000670.1:g.125559350G>A GRCh37
NC_000008.9:g.125628531G>A NCBI36
NG_042266.1:g.13008G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005005.3:c.404G>A MANE Select NP_004996.1:p.Arg135Gln
ENST00000276689.8:c.404G>A MANE Select ENSP00000276689.3:p.Arg135Gln
NM_001278645.1:c.236G>A NP_001265574.1:p.Arg79Gln
NM_001278645.2:c.236G>A NP_001265574.1:p.Arg79Gln
NM_001278646.1:c.275G>A NP_001265575.1:p.Arg92Gln
NM_001278646.2:c.275G>A NP_001265575.1:p.Arg92Gln
NM_001311168.1:c.371G>A NP_001298097.1:p.Arg124Gln
NM_001311168.2:c.371G>A NP_001298097.1:p.Arg124Gln
NM_005005.2:c.404G>A NP_004996.1:p.Arg135Gln
ENST00000276689.7:c.404G>A ENSP00000276689.3:p.Arg135Gln
ENST00000517367.1:c.371G>A ENSP00000430322.1:p.Arg124Gln
ENST00000518008.5:c.404G>A ENSP00000428282.1:p.Arg135Gln
ENST00000518657.5:n.450G>A
ENST00000518657.6:n.1484G>A
ENST00000522532.5:c.404G>A ENSP00000431115.1:p.Arg135Gln
ENST00000522532.6:c.404G>A ENSP00000431115.1:p.Arg135Gln
ENST00000524241.1:n.432G>A
ENST00000524241.2:n.4149G>A
ENST00000606244.2:c.404G>A ENSP00000497750.1:p.Arg135Gln
ENST00000676713.1:c.*258G>A ENSP00000504795.1:n.*258G>A
ENST00000677021.1:c.404G>A ENSP00000504235.1:p.Arg135Gln
ENST00000677782.1:n.423G>A
ENST00000677822.1:c.404G>A ENSP00000504813.1:p.Arg135Gln
ENST00000677950.1:c.*258G>A ENSP00000504071.1:n.*258G>A
ENST00000678753.1:n.107G>A
ENST00000678801.1:n.146G>A