Canonical Allele Identifier: CA408271018

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782268T>A (hg19) ; chr20:g.13801622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801622T>A , CM000682.2:g.13801622T>A	GRCh38
NC_000020.10:g.13782268T>A , CM000682.1:g.13782268T>A	GRCh37
NC_000020.9:g.13730268T>A	NCBI36
NG_015811.1:g.21597T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.656T>A MANE Select	ENSP00000367346.5:p.Phe219Tyr
ENST00000378081.9:c.656T>A	ENSP00000437325.1:p.Phe219Tyr
ENST00000378106.9:c.656T>A	ENSP00000367346.5:p.Phe219Tyr
ENST00000463598.1:c.572T>A	ENSP00000420497.1:p.Phe191Tyr
ENST00000464269.5:n.329T>A
ENST00000475968.5:n.533T>A
ENST00000476124.1:n.55T>A
ENST00000476536.5:n.616T>A
ENST00000477732.5:n.502+3122T>A
ENST00000479716.5:n.177T>A
ENST00000481249.5:n.533T>A
ENST00000485738.5:n.633T>A
ENST00000487478.5:n.80T>A
NM_001039375.2:c.572T>A	NP_001034464.1:p.Phe191Tyr
NM_024120.4:c.656T>A	NP_077025.2:p.Phe219Tyr
NR_029377.1:n.699T>A
XM_006723620.2:c.656T>A	XP_006723683.1:p.Phe219Tyr
XM_006723622.2:c.185T>A	XP_006723685.1:p.Phe62Tyr
XM_006723623.1:c.185T>A	XP_006723686.1:p.Phe62Tyr
XM_006723624.1:c.185T>A	XP_006723687.1:p.Phe62Tyr
XM_011529341.1:c.656T>A	XP_011527643.1:p.Phe219Tyr
XM_011529342.1:c.656T>A	XP_011527644.1:p.Phe219Tyr
XM_011529343.1:c.656T>A	XP_011527645.1:p.Phe219Tyr
XM_011529344.1:c.287T>A	XP_011527646.1:p.Phe96Tyr
XR_430269.2:n.676T>A
XR_937140.1:n.676T>A
NM_001352403.1:c.185T>A	NP_001339332.1:p.Phe62Tyr
NM_001352406.1:c.95T>A	NP_001339335.1:p.Phe32Tyr
NM_001352407.1:c.95T>A	NP_001339336.1:p.Phe32Tyr
NM_001352408.1:c.656T>A	NP_001339337.1:p.Phe219Tyr
NR_147978.1:n.699T>A
NR_147979.1:n.719T>A
NR_147980.1:n.595T>A
NR_147981.1:n.833T>A
NR_147982.1:n.833T>A
NR_147983.1:n.749T>A
XM_006723624.2:c.185T>A	XP_006723687.1:p.Phe62Tyr
XM_011529342.2:c.656T>A	XP_011527644.1:p.Phe219Tyr
XM_024451999.1:c.185T>A	XP_024307767.1:p.Phe62Tyr
XR_001754396.1:n.615T>A
XR_430269.3:n.676T>A
XR_937140.2:n.676T>A
NM_024120.5:c.656T>A MANE Select	NP_077025.2:p.Phe219Tyr
NM_001039375.3:c.572T>A	NP_001034464.1:p.Phe191Tyr
NM_001352403.2:c.185T>A	NP_001339332.1:p.Phe62Tyr
NM_001352406.2:c.95T>A	NP_001339335.1:p.Phe32Tyr
NM_001352407.2:c.95T>A	NP_001339336.1:p.Phe32Tyr
NR_029377.2:n.697T>A
NR_147978.2:n.697T>A
NR_147979.2:n.717T>A
NR_147980.2:n.593T>A
NR_147981.2:n.831T>A
NR_147982.2:n.831T>A
NR_147983.2:n.747T>A
NM_001352408.2:c.656T>A	NP_001339337.1:p.Phe219Tyr