Canonical Allele Identifier: CA9767611

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13785284G>A , CM000682.2:g.13785284G>A	GRCh38
NC_000020.10:g.13765930G>A , CM000682.1:g.13765930G>A	GRCh37
NC_000020.9:g.13713930G>A	NCBI36
NG_015811.1:g.5259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.216G>A MANE Select	ENSP00000367346.5:p.Lys72=
ENST00000378081.9:c.216G>A	ENSP00000437325.1:p.Lys72=
ENST00000378106.9:c.216G>A	ENSP00000367346.5:p.Lys72=
ENST00000463598.1:c.216G>A	ENSP00000420497.1:p.Lys72=
ENST00000475968.5:n.197G>A
ENST00000477732.5:n.199G>A
ENST00000481249.5:n.197G>A
ENST00000485738.5:n.215G>A
NM_001039375.2:c.216G>A	NP_001034464.1:p.Lys72=
NM_024120.4:c.216G>A	NP_077025.2:p.Lys72=
NR_029377.1:n.259G>A
XM_006723620.2:c.216G>A	XP_006723683.1:p.Lys72=
XM_006723622.2:c.-152G>A	XP_006723685.1:n.-152G>A
XM_006723623.1:c.-306G>A	XP_006723686.1:n.-306G>A
XM_006723624.1:c.-286G>A	XP_006723687.1:n.-286G>A
XM_011529341.1:c.216G>A	XP_011527643.1:p.Lys72=
XM_011529342.1:c.216G>A	XP_011527644.1:p.Lys72=
XM_011529343.1:c.216G>A	XP_011527645.1:p.Lys72=
XR_430269.2:n.236G>A
XR_937140.1:n.236G>A
NM_001352403.1:c.-152G>A	NP_001339332.1:n.-152G>A
NM_001352406.1:c.-366G>A	NP_001339335.1:n.-366G>A
NM_001352407.1:c.-480G>A	NP_001339336.1:n.-480G>A
NM_001352408.1:c.216G>A	NP_001339337.1:p.Lys72=
NR_147978.1:n.259G>A
NR_147979.1:n.259G>A
NR_147980.1:n.259G>A
NR_147981.1:n.259G>A
NR_147982.1:n.259G>A
NR_147983.1:n.259G>A
XM_006723624.2:c.-286G>A	XP_006723687.1:n.-286G>A
XM_011529342.2:c.216G>A	XP_011527644.1:p.Lys72=
XR_001754396.1:n.259G>A
XR_430269.3:n.236G>A
XR_937140.2:n.236G>A
NM_024120.5:c.216G>A MANE Select	NP_077025.2:p.Lys72=
NM_001039375.3:c.216G>A	NP_001034464.1:p.Lys72=
NM_001352403.2:c.-152G>A	NP_001339332.1:n.-152G>A
NM_001352406.2:c.-366G>A	NP_001339335.1:n.-366G>A
NM_001352407.2:c.-480G>A	NP_001339336.1:n.-480G>A
NR_029377.2:n.257G>A
NR_147978.2:n.257G>A
NR_147979.2:n.257G>A
NR_147980.2:n.257G>A
NR_147981.2:n.257G>A
NR_147982.2:n.257G>A
NR_147983.2:n.257G>A
NM_001352408.2:c.216G>A	NP_001339337.1:p.Lys72=