Canonical Allele Identifier: CA509676379

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782329G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801683G>C , CM000682.2:g.13801683G>C	GRCh38
NC_000020.10:g.13782329G>C , CM000682.1:g.13782329G>C	GRCh37
NC_000020.9:g.13730329G>C	NCBI36
NG_015811.1:g.21658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717G>C MANE Select	ENSP00000367346.5:p.Val239=
ENST00000378081.9:c.717G>C	ENSP00000437325.1:p.Val239=
ENST00000378106.9:c.717G>C	ENSP00000367346.5:p.Val239=
ENST00000463598.1:c.633G>C	ENSP00000420497.1:p.Val211=
ENST00000464269.5:n.390G>C
ENST00000475968.5:n.594G>C
ENST00000476124.1:n.116G>C
ENST00000476536.5:n.677G>C
ENST00000477732.5:n.502+3183G>C
ENST00000479716.5:n.238G>C
ENST00000481249.5:n.594G>C
ENST00000485738.5:n.694G>C
ENST00000487478.5:n.141G>C
NM_001039375.2:c.633G>C	NP_001034464.1:p.Val211=
NM_024120.4:c.717G>C	NP_077025.2:p.Val239=
NR_029377.1:n.760G>C
XM_006723620.2:c.717G>C	XP_006723683.1:p.Val239=
XM_006723622.2:c.246G>C	XP_006723685.1:p.Val82=
XM_006723623.1:c.246G>C	XP_006723686.1:p.Val82=
XM_006723624.1:c.246G>C	XP_006723687.1:p.Val82=
XM_011529341.1:c.717G>C	XP_011527643.1:p.Val239=
XM_011529342.1:c.717G>C	XP_011527644.1:p.Val239=
XM_011529343.1:c.717G>C	XP_011527645.1:p.Val239=
XM_011529344.1:c.348G>C	XP_011527646.1:p.Val116=
XR_430269.2:n.737G>C
XR_937140.1:n.737G>C
NM_001352403.1:c.246G>C	NP_001339332.1:p.Val82=
NM_001352406.1:c.156G>C	NP_001339335.1:p.Val52=
NM_001352407.1:c.156G>C	NP_001339336.1:p.Val52=
NM_001352408.1:c.717G>C	NP_001339337.1:p.Val239=
NR_147978.1:n.760G>C
NR_147979.1:n.780G>C
NR_147980.1:n.656G>C
NR_147981.1:n.894G>C
NR_147982.1:n.894G>C
NR_147983.1:n.810G>C
XM_006723624.2:c.246G>C	XP_006723687.1:p.Val82=
XM_011529342.2:c.717G>C	XP_011527644.1:p.Val239=
XM_024451999.1:c.246G>C	XP_024307767.1:p.Val82=
XR_001754396.1:n.676G>C
XR_430269.3:n.737G>C
XR_937140.2:n.737G>C
NM_024120.5:c.717G>C MANE Select	NP_077025.2:p.Val239=
NM_001039375.3:c.633G>C	NP_001034464.1:p.Val211=
NM_001352403.2:c.246G>C	NP_001339332.1:p.Val82=
NM_001352406.2:c.156G>C	NP_001339335.1:p.Val52=
NM_001352407.2:c.156G>C	NP_001339336.1:p.Val52=
NR_029377.2:n.758G>C
NR_147978.2:n.758G>C
NR_147979.2:n.778G>C
NR_147980.2:n.654G>C
NR_147981.2:n.892G>C
NR_147982.2:n.892G>C
NR_147983.2:n.808G>C
NM_001352408.2:c.717G>C	NP_001339337.1:p.Val239=