Canonical Allele Identifier: CA408271072

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782285C>A (hg19) ; chr20:g.13801639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801639C>A , CM000682.2:g.13801639C>A	GRCh38
NC_000020.10:g.13782285C>A , CM000682.1:g.13782285C>A	GRCh37
NC_000020.9:g.13730285C>A	NCBI36
NG_015811.1:g.21614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.673C>A MANE Select	ENSP00000367346.5:p.Leu225Met
ENST00000378081.9:c.673C>A	ENSP00000437325.1:p.Leu225Met
ENST00000378106.9:c.673C>A	ENSP00000367346.5:p.Leu225Met
ENST00000463598.1:c.589C>A	ENSP00000420497.1:p.Leu197Met
ENST00000464269.5:n.346C>A
ENST00000475968.5:n.550C>A
ENST00000476124.1:n.72C>A
ENST00000476536.5:n.633C>A
ENST00000477732.5:n.502+3139C>A
ENST00000479716.5:n.194C>A
ENST00000481249.5:n.550C>A
ENST00000485738.5:n.650C>A
ENST00000487478.5:n.97C>A
NM_001039375.2:c.589C>A	NP_001034464.1:p.Leu197Met
NM_024120.4:c.673C>A	NP_077025.2:p.Leu225Met
NR_029377.1:n.716C>A
XM_006723620.2:c.673C>A	XP_006723683.1:p.Leu225Met
XM_006723622.2:c.202C>A	XP_006723685.1:p.Leu68Met
XM_006723623.1:c.202C>A	XP_006723686.1:p.Leu68Met
XM_006723624.1:c.202C>A	XP_006723687.1:p.Leu68Met
XM_011529341.1:c.673C>A	XP_011527643.1:p.Leu225Met
XM_011529342.1:c.673C>A	XP_011527644.1:p.Leu225Met
XM_011529343.1:c.673C>A	XP_011527645.1:p.Leu225Met
XM_011529344.1:c.304C>A	XP_011527646.1:p.Leu102Met
XR_430269.2:n.693C>A
XR_937140.1:n.693C>A
NM_001352403.1:c.202C>A	NP_001339332.1:p.Leu68Met
NM_001352406.1:c.112C>A	NP_001339335.1:p.Leu38Met
NM_001352407.1:c.112C>A	NP_001339336.1:p.Leu38Met
NM_001352408.1:c.673C>A	NP_001339337.1:p.Leu225Met
NR_147978.1:n.716C>A
NR_147979.1:n.736C>A
NR_147980.1:n.612C>A
NR_147981.1:n.850C>A
NR_147982.1:n.850C>A
NR_147983.1:n.766C>A
XM_006723624.2:c.202C>A	XP_006723687.1:p.Leu68Met
XM_011529342.2:c.673C>A	XP_011527644.1:p.Leu225Met
XM_024451999.1:c.202C>A	XP_024307767.1:p.Leu68Met
XR_001754396.1:n.632C>A
XR_430269.3:n.693C>A
XR_937140.2:n.693C>A
NM_024120.5:c.673C>A MANE Select	NP_077025.2:p.Leu225Met
NM_001039375.3:c.589C>A	NP_001034464.1:p.Leu197Met
NM_001352403.2:c.202C>A	NP_001339332.1:p.Leu68Met
NM_001352406.2:c.112C>A	NP_001339335.1:p.Leu38Met
NM_001352407.2:c.112C>A	NP_001339336.1:p.Leu38Met
NR_029377.2:n.714C>A
NR_147978.2:n.714C>A
NR_147979.2:n.734C>A
NR_147980.2:n.610C>A
NR_147981.2:n.848C>A
NR_147982.2:n.848C>A
NR_147983.2:n.764C>A
NM_001352408.2:c.673C>A	NP_001339337.1:p.Leu225Met