Canonical Allele Identifier: CA322055
Gene: NDUFA9 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4654828G>A , CM000674.2:g.4654828G>A GRCh38
NC_000012.11:g.4763994G>A , CM000674.1:g.4763994G>A GRCh37
NC_000012.10:g.4634255G>A NCBI36
NG_032124.1:g.10731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266544.10:c.224G>A MANE Select ENSP00000266544.5:p.Arg75His
ENST00000648836.1:c.224G>A ENSP00000497305.1:p.Arg75His
ENST00000266544.9:c.224G>A ENSP00000266544.5:p.Arg75His
ENST00000396655.6:n.234G>A
ENST00000535050.1:c.290G>A ENSP00000440305.1:p.Arg97His
ENST00000536588.1:c.379G>A
ENST00000539573.5:n.82-2920G>A
ENST00000542369.5:n.236G>A
ENST00000544679.1:n.232G>A
NM_005002.4:c.224G>A NP_004993.1:p.Arg75His
NM_005002.5:c.224G>A MANE Select NP_004993.1:p.Arg75His