Canonical Allele Identifier: CA408271116

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782297C>A (hg19) ; chr20:g.13801651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801651C>A , CM000682.2:g.13801651C>A	GRCh38
NC_000020.10:g.13782297C>A , CM000682.1:g.13782297C>A	GRCh37
NC_000020.9:g.13730297C>A	NCBI36
NG_015811.1:g.21626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.685C>A MANE Select	ENSP00000367346.5:p.Leu229Ile
ENST00000378081.9:c.685C>A	ENSP00000437325.1:p.Leu229Ile
ENST00000378106.9:c.685C>A	ENSP00000367346.5:p.Leu229Ile
ENST00000463598.1:c.601C>A	ENSP00000420497.1:p.Leu201Ile
ENST00000464269.5:n.358C>A
ENST00000475968.5:n.562C>A
ENST00000476124.1:n.84C>A
ENST00000476536.5:n.645C>A
ENST00000477732.5:n.502+3151C>A
ENST00000479716.5:n.206C>A
ENST00000481249.5:n.562C>A
ENST00000485738.5:n.662C>A
ENST00000487478.5:n.109C>A
NM_001039375.2:c.601C>A	NP_001034464.1:p.Leu201Ile
NM_024120.4:c.685C>A	NP_077025.2:p.Leu229Ile
NR_029377.1:n.728C>A
XM_006723620.2:c.685C>A	XP_006723683.1:p.Leu229Ile
XM_006723622.2:c.214C>A	XP_006723685.1:p.Leu72Ile
XM_006723623.1:c.214C>A	XP_006723686.1:p.Leu72Ile
XM_006723624.1:c.214C>A	XP_006723687.1:p.Leu72Ile
XM_011529341.1:c.685C>A	XP_011527643.1:p.Leu229Ile
XM_011529342.1:c.685C>A	XP_011527644.1:p.Leu229Ile
XM_011529343.1:c.685C>A	XP_011527645.1:p.Leu229Ile
XM_011529344.1:c.316C>A	XP_011527646.1:p.Leu106Ile
XR_430269.2:n.705C>A
XR_937140.1:n.705C>A
NM_001352403.1:c.214C>A	NP_001339332.1:p.Leu72Ile
NM_001352406.1:c.124C>A	NP_001339335.1:p.Leu42Ile
NM_001352407.1:c.124C>A	NP_001339336.1:p.Leu42Ile
NM_001352408.1:c.685C>A	NP_001339337.1:p.Leu229Ile
NR_147978.1:n.728C>A
NR_147979.1:n.748C>A
NR_147980.1:n.624C>A
NR_147981.1:n.862C>A
NR_147982.1:n.862C>A
NR_147983.1:n.778C>A
XM_006723624.2:c.214C>A	XP_006723687.1:p.Leu72Ile
XM_011529342.2:c.685C>A	XP_011527644.1:p.Leu229Ile
XM_024451999.1:c.214C>A	XP_024307767.1:p.Leu72Ile
XR_001754396.1:n.644C>A
XR_430269.3:n.705C>A
XR_937140.2:n.705C>A
NM_024120.5:c.685C>A MANE Select	NP_077025.2:p.Leu229Ile
NM_001039375.3:c.601C>A	NP_001034464.1:p.Leu201Ile
NM_001352403.2:c.214C>A	NP_001339332.1:p.Leu72Ile
NM_001352406.2:c.124C>A	NP_001339335.1:p.Leu42Ile
NM_001352407.2:c.124C>A	NP_001339336.1:p.Leu42Ile
NR_029377.2:n.726C>A
NR_147978.2:n.726C>A
NR_147979.2:n.746C>A
NR_147980.2:n.622C>A
NR_147981.2:n.860C>A
NR_147982.2:n.860C>A
NR_147983.2:n.776C>A
NM_001352408.2:c.685C>A	NP_001339337.1:p.Leu229Ile