Canonical Allele Identifier: CA509675863

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782203T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801557T>A , CM000682.2:g.13801557T>A	GRCh38
NC_000020.10:g.13782203T>A , CM000682.1:g.13782203T>A	GRCh37
NC_000020.9:g.13730203T>A	NCBI36
NG_015811.1:g.21532T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.591T>A MANE Select	ENSP00000367346.5:p.Leu197=
ENST00000378081.9:c.591T>A	ENSP00000437325.1:p.Leu197=
ENST00000378106.9:c.591T>A	ENSP00000367346.5:p.Leu197=
ENST00000463598.1:c.507T>A	ENSP00000420497.1:p.Leu169=
ENST00000464269.5:n.264T>A
ENST00000475968.5:n.468T>A
ENST00000476536.5:n.551T>A
ENST00000477732.5:n.502+3057T>A
ENST00000479716.5:n.112T>A
ENST00000481249.5:n.468T>A
ENST00000485738.5:n.568T>A
ENST00000487478.5:n.15T>A
NM_001039375.2:c.507T>A	NP_001034464.1:p.Leu169=
NM_024120.4:c.591T>A	NP_077025.2:p.Leu197=
NR_029377.1:n.634T>A
XM_006723620.2:c.591T>A	XP_006723683.1:p.Leu197=
XM_006723622.2:c.120T>A	XP_006723685.1:p.Leu40=
XM_006723623.1:c.120T>A	XP_006723686.1:p.Leu40=
XM_006723624.1:c.120T>A	XP_006723687.1:p.Leu40=
XM_011529341.1:c.591T>A	XP_011527643.1:p.Leu197=
XM_011529342.1:c.591T>A	XP_011527644.1:p.Leu197=
XM_011529343.1:c.591T>A	XP_011527645.1:p.Leu197=
XM_011529344.1:c.222T>A	XP_011527646.1:p.Leu74=
XR_430269.2:n.611T>A
XR_937140.1:n.611T>A
NM_001352403.1:c.120T>A	NP_001339332.1:p.Leu40=
NM_001352406.1:c.30T>A	NP_001339335.1:p.Leu10=
NM_001352407.1:c.30T>A	NP_001339336.1:p.Leu10=
NM_001352408.1:c.591T>A	NP_001339337.1:p.Leu197=
NR_147978.1:n.634T>A
NR_147979.1:n.654T>A
NR_147980.1:n.530T>A
NR_147981.1:n.768T>A
NR_147982.1:n.768T>A
NR_147983.1:n.684T>A
XM_006723624.2:c.120T>A	XP_006723687.1:p.Leu40=
XM_011529342.2:c.591T>A	XP_011527644.1:p.Leu197=
XM_024451999.1:c.120T>A	XP_024307767.1:p.Leu40=
XR_001754396.1:n.550T>A
XR_430269.3:n.611T>A
XR_937140.2:n.611T>A
NM_024120.5:c.591T>A MANE Select	NP_077025.2:p.Leu197=
NM_001039375.3:c.507T>A	NP_001034464.1:p.Leu169=
NM_001352403.2:c.120T>A	NP_001339332.1:p.Leu40=
NM_001352406.2:c.30T>A	NP_001339335.1:p.Leu10=
NM_001352407.2:c.30T>A	NP_001339336.1:p.Leu10=
NR_029377.2:n.632T>A
NR_147978.2:n.632T>A
NR_147979.2:n.652T>A
NR_147980.2:n.528T>A
NR_147981.2:n.766T>A
NR_147982.2:n.766T>A
NR_147983.2:n.682T>A
NM_001352408.2:c.591T>A	NP_001339337.1:p.Leu197=