Canonical Allele Identifier: CA9767553
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13785075C>A , CM000682.2:g.13785075C>A GRCh38
NC_000020.10:g.13765721C>A , CM000682.1:g.13765721C>A GRCh37
NC_000020.9:g.13713721C>A NCBI36
NG_015811.1:g.5050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378106.10:c.7C>A MANE Select ENSP00000367346.5:p.Arg3=
ENST00000378081.9:c.7C>A ENSP00000437325.1:p.Arg3=
ENST00000378106.9:c.7C>A ENSP00000367346.5:p.Arg3=
ENST00000463598.1:c.7C>A ENSP00000420497.1:p.Arg3=
ENST00000485738.5:n.6C>A
NM_001039375.2:c.7C>A NP_001034464.1:p.Arg3=
NM_024120.4:c.7C>A NP_077025.2:p.Arg3=
NR_029377.1:n.50C>A
XM_006723620.2:c.7C>A XP_006723683.1:p.Arg3=
XM_006723622.2:c.-361C>A XP_006723685.1:n.-361C>A
XM_006723623.1:c.-515C>A XP_006723686.1:n.-515C>A
XM_006723624.1:c.-495C>A XP_006723687.1:n.-495C>A
XM_011529341.1:c.7C>A XP_011527643.1:p.Arg3=
XM_011529342.1:c.7C>A XP_011527644.1:p.Arg3=
XM_011529343.1:c.7C>A XP_011527645.1:p.Arg3=
XR_430269.2:n.27C>A
XR_937140.1:n.27C>A
NM_001352403.1:c.-361C>A NP_001339332.1:n.-361C>A
NM_001352406.1:c.-575C>A NP_001339335.1:n.-575C>A
NM_001352407.1:c.-689C>A NP_001339336.1:n.-689C>A
NM_001352408.1:c.7C>A NP_001339337.1:p.Arg3=
NR_147978.1:n.50C>A
NR_147979.1:n.50C>A
NR_147980.1:n.50C>A
NR_147981.1:n.50C>A
NR_147982.1:n.50C>A
NR_147983.1:n.50C>A
XM_006723624.2:c.-495C>A XP_006723687.1:n.-495C>A
XM_011529342.2:c.7C>A XP_011527644.1:p.Arg3=
XR_001754396.1:n.50C>A
XR_430269.3:n.27C>A
XR_937140.2:n.27C>A
NM_024120.5:c.7C>A MANE Select NP_077025.2:p.Arg3=
NM_001039375.3:c.7C>A NP_001034464.1:p.Arg3=
NM_001352403.2:c.-361C>A NP_001339332.1:n.-361C>A
NM_001352406.2:c.-575C>A NP_001339335.1:n.-575C>A
NM_001352407.2:c.-689C>A NP_001339336.1:n.-689C>A
NR_029377.2:n.48C>A
NR_147978.2:n.48C>A
NR_147979.2:n.48C>A
NR_147980.2:n.48C>A
NR_147981.2:n.48C>A
NR_147982.2:n.48C>A
NR_147983.2:n.48C>A
NM_001352408.2:c.7C>A NP_001339337.1:p.Arg3=