Canonical Allele Identifier: CA408270967

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782258A>T (hg19) ; chr20:g.13801612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801612A>T , CM000682.2:g.13801612A>T	GRCh38
NC_000020.10:g.13782258A>T , CM000682.1:g.13782258A>T	GRCh37
NC_000020.9:g.13730258A>T	NCBI36
NG_015811.1:g.21587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.646A>T MANE Select	ENSP00000367346.5:p.Ile216Phe
ENST00000378081.9:c.646A>T	ENSP00000437325.1:p.Ile216Phe
ENST00000378106.9:c.646A>T	ENSP00000367346.5:p.Ile216Phe
ENST00000463598.1:c.562A>T	ENSP00000420497.1:p.Ile188Phe
ENST00000464269.5:n.319A>T
ENST00000475968.5:n.523A>T
ENST00000476124.1:n.45A>T
ENST00000476536.5:n.606A>T
ENST00000477732.5:n.502+3112A>T
ENST00000479716.5:n.167A>T
ENST00000481249.5:n.523A>T
ENST00000485738.5:n.623A>T
ENST00000487478.5:n.70A>T
NM_001039375.2:c.562A>T	NP_001034464.1:p.Ile188Phe
NM_024120.4:c.646A>T	NP_077025.2:p.Ile216Phe
NR_029377.1:n.689A>T
XM_006723620.2:c.646A>T	XP_006723683.1:p.Ile216Phe
XM_006723622.2:c.175A>T	XP_006723685.1:p.Ile59Phe
XM_006723623.1:c.175A>T	XP_006723686.1:p.Ile59Phe
XM_006723624.1:c.175A>T	XP_006723687.1:p.Ile59Phe
XM_011529341.1:c.646A>T	XP_011527643.1:p.Ile216Phe
XM_011529342.1:c.646A>T	XP_011527644.1:p.Ile216Phe
XM_011529343.1:c.646A>T	XP_011527645.1:p.Ile216Phe
XM_011529344.1:c.277A>T	XP_011527646.1:p.Ile93Phe
XR_430269.2:n.666A>T
XR_937140.1:n.666A>T
NM_001352403.1:c.175A>T	NP_001339332.1:p.Ile59Phe
NM_001352406.1:c.85A>T	NP_001339335.1:p.Ile29Phe
NM_001352407.1:c.85A>T	NP_001339336.1:p.Ile29Phe
NM_001352408.1:c.646A>T	NP_001339337.1:p.Ile216Phe
NR_147978.1:n.689A>T
NR_147979.1:n.709A>T
NR_147980.1:n.585A>T
NR_147981.1:n.823A>T
NR_147982.1:n.823A>T
NR_147983.1:n.739A>T
XM_006723624.2:c.175A>T	XP_006723687.1:p.Ile59Phe
XM_011529342.2:c.646A>T	XP_011527644.1:p.Ile216Phe
XM_024451999.1:c.175A>T	XP_024307767.1:p.Ile59Phe
XR_001754396.1:n.605A>T
XR_430269.3:n.666A>T
XR_937140.2:n.666A>T
NM_024120.5:c.646A>T MANE Select	NP_077025.2:p.Ile216Phe
NM_001039375.3:c.562A>T	NP_001034464.1:p.Ile188Phe
NM_001352403.2:c.175A>T	NP_001339332.1:p.Ile59Phe
NM_001352406.2:c.85A>T	NP_001339335.1:p.Ile29Phe
NM_001352407.2:c.85A>T	NP_001339336.1:p.Ile29Phe
NR_029377.2:n.687A>T
NR_147978.2:n.687A>T
NR_147979.2:n.707A>T
NR_147980.2:n.583A>T
NR_147981.2:n.821A>T
NR_147982.2:n.821A>T
NR_147983.2:n.737A>T
NM_001352408.2:c.646A>T	NP_001339337.1:p.Ile216Phe