Canonical Allele Identifier: CA462751116
Community Standard Title: NM_005005.3(NDUFB9):c.174G>A (p.Ala58=)
Gene: NDUFB9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.124543159G>A , CM000670.2:g.124543159G>A GRCh38
NC_000008.10:g.125555400G>A , CM000670.1:g.125555400G>A GRCh37
NC_000008.9:g.125624581G>A NCBI36
NG_042266.1:g.9058G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005005.3:c.174G>A MANE Select NP_004996.1:p.Ala58=
ENST00000276689.8:c.174G>A MANE Select ENSP00000276689.3:p.Ala58=
NM_001278645.1:c.6G>A NP_001265574.1:p.Ala2=
NM_001278645.2:c.6G>A NP_001265574.1:p.Ala2=
NM_001278646.1:c.45G>A NP_001265575.1:p.Ala15=
NM_001278646.2:c.45G>A NP_001265575.1:p.Ala15=
NM_001311168.1:c.141G>A NP_001298097.1:p.Ala47=
NM_001311168.2:c.141G>A NP_001298097.1:p.Ala47=
NM_005005.2:c.174G>A NP_004996.1:p.Ala58=
ENST00000276689.7:c.174G>A ENSP00000276689.3:p.Ala58=
ENST00000517367.1:c.141G>A ENSP00000430322.1:p.Ala47=
ENST00000518008.5:c.174G>A ENSP00000428282.1:p.Ala58=
ENST00000518657.5:n.220G>A
ENST00000518657.6:n.1254G>A
ENST00000522532.5:c.174G>A ENSP00000431115.1:p.Ala58=
ENST00000522532.6:c.174G>A ENSP00000431115.1:p.Ala58=
ENST00000524241.2:n.199G>A
ENST00000606244.2:c.174G>A ENSP00000497750.1:p.Ala58=
ENST00000676713.1:c.*28G>A ENSP00000504795.1:n.*28G>A
ENST00000677021.1:c.174G>A ENSP00000504235.1:p.Ala58=
ENST00000677782.1:n.193G>A
ENST00000677822.1:c.174G>A ENSP00000504813.1:p.Ala58=
ENST00000677950.1:c.*28G>A ENSP00000504071.1:n.*28G>A