Canonical Allele Identifier: CA509675483

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782144T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801498T>C , CM000682.2:g.13801498T>C	GRCh38
NC_000020.10:g.13782144T>C , CM000682.1:g.13782144T>C	GRCh37
NC_000020.9:g.13730144T>C	NCBI36
NG_015811.1:g.21473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.532T>C MANE Select	ENSP00000367346.5:p.Leu178=
ENST00000378081.9:c.532T>C	ENSP00000437325.1:p.Leu178=
ENST00000378106.9:c.532T>C	ENSP00000367346.5:p.Leu178=
ENST00000463598.1:c.448T>C	ENSP00000420497.1:p.Leu150=
ENST00000464269.5:n.205T>C
ENST00000475968.5:n.409T>C
ENST00000476536.5:n.492T>C
ENST00000477732.5:n.502+2998T>C
ENST00000479716.5:n.53T>C
ENST00000481249.5:n.409T>C
ENST00000485738.5:n.519-10T>C
NM_001039375.2:c.448T>C	NP_001034464.1:p.Leu150=
NM_024120.4:c.532T>C	NP_077025.2:p.Leu178=
NR_029377.1:n.575T>C
XM_006723620.2:c.532T>C	XP_006723683.1:p.Leu178=
XM_006723622.2:c.61T>C	XP_006723685.1:p.Leu21=
XM_006723623.1:c.61T>C	XP_006723686.1:p.Leu21=
XM_006723624.1:c.61T>C	XP_006723687.1:p.Leu21=
XM_011529341.1:c.532T>C	XP_011527643.1:p.Leu178=
XM_011529342.1:c.532T>C	XP_011527644.1:p.Leu178=
XM_011529343.1:c.532T>C	XP_011527645.1:p.Leu178=
XM_011529344.1:c.163T>C	XP_011527646.1:p.Leu55=
XR_430269.2:n.552T>C
XR_937140.1:n.552T>C
NM_001352403.1:c.61T>C	NP_001339332.1:p.Leu21=
NM_001352406.1:c.-30T>C	NP_001339335.1:n.-30T>C
NM_001352407.1:c.-30T>C	NP_001339336.1:n.-30T>C
NM_001352408.1:c.532T>C	NP_001339337.1:p.Leu178=
NR_147978.1:n.575T>C
NR_147979.1:n.595T>C
NR_147980.1:n.471T>C
NR_147981.1:n.709T>C
NR_147982.1:n.709T>C
NR_147983.1:n.625T>C
XM_006723624.2:c.61T>C	XP_006723687.1:p.Leu21=
XM_011529342.2:c.532T>C	XP_011527644.1:p.Leu178=
XM_024451999.1:c.61T>C	XP_024307767.1:p.Leu21=
XR_001754396.1:n.491T>C
XR_430269.3:n.552T>C
XR_937140.2:n.552T>C
NM_024120.5:c.532T>C MANE Select	NP_077025.2:p.Leu178=
NM_001039375.3:c.448T>C	NP_001034464.1:p.Leu150=
NM_001352403.2:c.61T>C	NP_001339332.1:p.Leu21=
NM_001352406.2:c.-30T>C	NP_001339335.1:n.-30T>C
NM_001352407.2:c.-30T>C	NP_001339336.1:n.-30T>C
NR_029377.2:n.573T>C
NR_147978.2:n.573T>C
NR_147979.2:n.593T>C
NR_147980.2:n.469T>C
NR_147981.2:n.707T>C
NR_147982.2:n.707T>C
NR_147983.2:n.623T>C
NM_001352408.2:c.532T>C	NP_001339337.1:p.Leu178=