Canonical Allele Identifier: CA509676139

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782294C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801648C>T , CM000682.2:g.13801648C>T	GRCh38
NC_000020.10:g.13782294C>T , CM000682.1:g.13782294C>T	GRCh37
NC_000020.9:g.13730294C>T	NCBI36
NG_015811.1:g.21623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.682C>T MANE Select	ENSP00000367346.5:p.Leu228=
ENST00000378081.9:c.682C>T	ENSP00000437325.1:p.Leu228=
ENST00000378106.9:c.682C>T	ENSP00000367346.5:p.Leu228=
ENST00000463598.1:c.598C>T	ENSP00000420497.1:p.Leu200=
ENST00000464269.5:n.355C>T
ENST00000475968.5:n.559C>T
ENST00000476124.1:n.81C>T
ENST00000476536.5:n.642C>T
ENST00000477732.5:n.502+3148C>T
ENST00000479716.5:n.203C>T
ENST00000481249.5:n.559C>T
ENST00000485738.5:n.659C>T
ENST00000487478.5:n.106C>T
NM_001039375.2:c.598C>T	NP_001034464.1:p.Leu200=
NM_024120.4:c.682C>T	NP_077025.2:p.Leu228=
NR_029377.1:n.725C>T
XM_006723620.2:c.682C>T	XP_006723683.1:p.Leu228=
XM_006723622.2:c.211C>T	XP_006723685.1:p.Leu71=
XM_006723623.1:c.211C>T	XP_006723686.1:p.Leu71=
XM_006723624.1:c.211C>T	XP_006723687.1:p.Leu71=
XM_011529341.1:c.682C>T	XP_011527643.1:p.Leu228=
XM_011529342.1:c.682C>T	XP_011527644.1:p.Leu228=
XM_011529343.1:c.682C>T	XP_011527645.1:p.Leu228=
XM_011529344.1:c.313C>T	XP_011527646.1:p.Leu105=
XR_430269.2:n.702C>T
XR_937140.1:n.702C>T
NM_001352403.1:c.211C>T	NP_001339332.1:p.Leu71=
NM_001352406.1:c.121C>T	NP_001339335.1:p.Leu41=
NM_001352407.1:c.121C>T	NP_001339336.1:p.Leu41=
NM_001352408.1:c.682C>T	NP_001339337.1:p.Leu228=
NR_147978.1:n.725C>T
NR_147979.1:n.745C>T
NR_147980.1:n.621C>T
NR_147981.1:n.859C>T
NR_147982.1:n.859C>T
NR_147983.1:n.775C>T
XM_006723624.2:c.211C>T	XP_006723687.1:p.Leu71=
XM_011529342.2:c.682C>T	XP_011527644.1:p.Leu228=
XM_024451999.1:c.211C>T	XP_024307767.1:p.Leu71=
XR_001754396.1:n.641C>T
XR_430269.3:n.702C>T
XR_937140.2:n.702C>T
NM_024120.5:c.682C>T MANE Select	NP_077025.2:p.Leu228=
NM_001039375.3:c.598C>T	NP_001034464.1:p.Leu200=
NM_001352403.2:c.211C>T	NP_001339332.1:p.Leu71=
NM_001352406.2:c.121C>T	NP_001339335.1:p.Leu41=
NM_001352407.2:c.121C>T	NP_001339336.1:p.Leu41=
NR_029377.2:n.723C>T
NR_147978.2:n.723C>T
NR_147979.2:n.743C>T
NR_147980.2:n.619C>T
NR_147981.2:n.857C>T
NR_147982.2:n.857C>T
NR_147983.2:n.773C>T
NM_001352408.2:c.682C>T	NP_001339337.1:p.Leu228=