Canonical Allele Identifier: CA408270970

Gene: NDUFAF5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.646A>C MANE Select	ENSP00000367346.5:p.Ile216Leu
ENST00000378081.9:c.646A>C	ENSP00000437325.1:p.Ile216Leu
ENST00000378106.9:c.646A>C	ENSP00000367346.5:p.Ile216Leu
ENST00000463598.1:c.562A>C	ENSP00000420497.1:p.Ile188Leu
ENST00000464269.5:n.319A>C
ENST00000475968.5:n.523A>C
ENST00000476124.1:n.45A>C
ENST00000476536.5:n.606A>C
ENST00000477732.5:n.502+3112A>C
ENST00000479716.5:n.167A>C
ENST00000481249.5:n.523A>C
ENST00000485738.5:n.623A>C
ENST00000487478.5:n.70A>C
NM_001039375.2:c.562A>C	NP_001034464.1:p.Ile188Leu
NM_024120.4:c.646A>C	NP_077025.2:p.Ile216Leu
NR_029377.1:n.689A>C
XM_006723620.2:c.646A>C	XP_006723683.1:p.Ile216Leu
XM_006723622.2:c.175A>C	XP_006723685.1:p.Ile59Leu
XM_006723623.1:c.175A>C	XP_006723686.1:p.Ile59Leu
XM_006723624.1:c.175A>C	XP_006723687.1:p.Ile59Leu
XM_011529341.1:c.646A>C	XP_011527643.1:p.Ile216Leu
XM_011529342.1:c.646A>C	XP_011527644.1:p.Ile216Leu
XM_011529343.1:c.646A>C	XP_011527645.1:p.Ile216Leu
XM_011529344.1:c.277A>C	XP_011527646.1:p.Ile93Leu
XR_430269.2:n.666A>C
XR_937140.1:n.666A>C
NM_001352403.1:c.175A>C	NP_001339332.1:p.Ile59Leu
NM_001352406.1:c.85A>C	NP_001339335.1:p.Ile29Leu
NM_001352407.1:c.85A>C	NP_001339336.1:p.Ile29Leu
NM_001352408.1:c.646A>C	NP_001339337.1:p.Ile216Leu
NR_147978.1:n.689A>C
NR_147979.1:n.709A>C
NR_147980.1:n.585A>C
NR_147981.1:n.823A>C
NR_147982.1:n.823A>C
NR_147983.1:n.739A>C
XM_006723624.2:c.175A>C	XP_006723687.1:p.Ile59Leu
XM_011529342.2:c.646A>C	XP_011527644.1:p.Ile216Leu
XM_024451999.1:c.175A>C	XP_024307767.1:p.Ile59Leu
XR_001754396.1:n.605A>C
XR_430269.3:n.666A>C
XR_937140.2:n.666A>C
NM_024120.5:c.646A>C MANE Select	NP_077025.2:p.Ile216Leu
NM_001039375.3:c.562A>C	NP_001034464.1:p.Ile188Leu
NM_001352403.2:c.175A>C	NP_001339332.1:p.Ile59Leu
NM_001352406.2:c.85A>C	NP_001339335.1:p.Ile29Leu
NM_001352407.2:c.85A>C	NP_001339336.1:p.Ile29Leu
NR_029377.2:n.687A>C
NR_147978.2:n.687A>C
NR_147979.2:n.707A>C
NR_147980.2:n.583A>C
NR_147981.2:n.821A>C
NR_147982.2:n.821A>C
NR_147983.2:n.737A>C
NM_001352408.2:c.646A>C	NP_001339337.1:p.Ile216Leu