Canonical Allele Identifier: CA9767826

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801583C>T , CM000682.2:g.13801583C>T	GRCh38
NC_000020.10:g.13782229C>T , CM000682.1:g.13782229C>T	GRCh37
NC_000020.9:g.13730229C>T	NCBI36
NG_015811.1:g.21558C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024120.5:c.617C>T MANE Select	NP_077025.2:p.Thr206Met
ENST00000378106.10:c.617C>T MANE Select	ENSP00000367346.5:p.Thr206Met
NM_001039375.2:c.533C>T	NP_001034464.1:p.Thr178Met
NM_001039375.3:c.533C>T	NP_001034464.1:p.Thr178Met
NM_001352403.1:c.146C>T	NP_001339332.1:p.Thr49Met
NM_001352403.2:c.146C>T	NP_001339332.1:p.Thr49Met
NM_001352406.1:c.56C>T	NP_001339335.1:p.Thr19Met
NM_001352406.2:c.56C>T	NP_001339335.1:p.Thr19Met
NM_001352407.1:c.56C>T	NP_001339336.1:p.Thr19Met
NM_001352407.2:c.56C>T	NP_001339336.1:p.Thr19Met
NM_001352408.1:c.617C>T	NP_001339337.1:p.Thr206Met
NM_001352408.2:c.617C>T	NP_001339337.1:p.Thr206Met
NM_024120.4:c.617C>T	NP_077025.2:p.Thr206Met
NR_029377.1:n.660C>T
NR_029377.2:n.658C>T
NR_147978.1:n.660C>T
NR_147978.2:n.658C>T
NR_147979.1:n.680C>T
NR_147979.2:n.678C>T
NR_147980.1:n.556C>T
NR_147980.2:n.554C>T
NR_147981.1:n.794C>T
NR_147981.2:n.792C>T
NR_147982.1:n.794C>T
NR_147982.2:n.792C>T
NR_147983.1:n.710C>T
NR_147983.2:n.708C>T
ENST00000378081.9:c.617C>T	ENSP00000437325.1:p.Thr206Met
ENST00000378106.9:c.617C>T	ENSP00000367346.5:p.Thr206Met
ENST00000463598.1:c.533C>T	ENSP00000420497.1:p.Thr178Met
ENST00000464269.5:n.290C>T
ENST00000475968.5:n.494C>T
ENST00000476124.1:n.16C>T
ENST00000476536.5:n.577C>T
ENST00000477732.5:n.502+3083C>T
ENST00000479716.5:n.138C>T
ENST00000481249.5:n.494C>T
ENST00000485738.5:n.594C>T
ENST00000487478.5:n.41C>T
XM_006723620.2:c.617C>T	XP_006723683.1:p.Thr206Met
XM_006723622.2:c.146C>T	XP_006723685.1:p.Thr49Met
XM_006723623.1:c.146C>T	XP_006723686.1:p.Thr49Met
XM_006723624.1:c.146C>T	XP_006723687.1:p.Thr49Met
XM_006723624.2:c.146C>T	XP_006723687.1:p.Thr49Met
XM_011529341.1:c.617C>T	XP_011527643.1:p.Thr206Met
XM_011529342.1:c.617C>T	XP_011527644.1:p.Thr206Met
XM_011529342.2:c.617C>T	XP_011527644.1:p.Thr206Met
XM_011529343.1:c.617C>T	XP_011527645.1:p.Thr206Met
XM_011529344.1:c.248C>T	XP_011527646.1:p.Thr83Met
XM_024451999.1:c.146C>T	XP_024307767.1:p.Thr49Met
XR_001754396.1:n.576C>T
XR_430269.2:n.637C>T
XR_430269.3:n.637C>T
XR_937140.1:n.637C>T
XR_937140.2:n.637C>T