Canonical Allele Identifier: CA9767701

Gene: NDUFAF5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13788652G>C , CM000682.2:g.13788652G>C	GRCh38
NC_000020.10:g.13769298G>C , CM000682.1:g.13769298G>C	GRCh37
NC_000020.9:g.13717298G>C	NCBI36
NG_015811.1:g.8627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.327G>C MANE Select	ENSP00000367346.5:p.Lys109Asn
ENST00000378081.9:c.327G>C	ENSP00000437325.1:p.Lys109Asn
ENST00000378106.9:c.327G>C	ENSP00000367346.5:p.Lys109Asn
ENST00000463598.1:c.327G>C	ENSP00000420497.1:p.Lys109Asn
ENST00000469177.5:n.265G>C
ENST00000475968.5:n.308G>C
ENST00000476536.5:n.267G>C
ENST00000477732.5:n.310G>C
ENST00000481249.5:n.308G>C
ENST00000485738.5:n.326G>C
NM_001039375.2:c.327G>C	NP_001034464.1:p.Lys109Asn
NM_024120.4:c.327G>C	NP_077025.2:p.Lys109Asn
NR_029377.1:n.370G>C
XM_006723620.2:c.327G>C	XP_006723683.1:p.Lys109Asn
XM_006723622.2:c.-41G>C	XP_006723685.1:n.-41G>C
XM_006723623.1:c.-61G>C	XP_006723686.1:n.-61G>C
XM_006723624.1:c.-41G>C	XP_006723687.1:n.-41G>C
XM_011529341.1:c.327G>C	XP_011527643.1:p.Lys109Asn
XM_011529342.1:c.327G>C	XP_011527644.1:p.Lys109Asn
XM_011529343.1:c.327G>C	XP_011527645.1:p.Lys109Asn
XR_430269.2:n.347G>C
XR_937140.1:n.347G>C
XR_937283.1:n.267-136C>G
NM_001352403.1:c.-41G>C	NP_001339332.1:n.-41G>C
NM_001352406.1:c.-255G>C	NP_001339335.1:n.-255G>C
NM_001352407.1:c.-235G>C	NP_001339336.1:n.-235G>C
NM_001352408.1:c.327G>C	NP_001339337.1:p.Lys109Asn
NR_147978.1:n.370G>C
NR_147979.1:n.370G>C
NR_147980.1:n.370G>C
NR_147981.1:n.504G>C
NR_147982.1:n.504G>C
NR_147983.1:n.504G>C
XM_006723624.2:c.-41G>C	XP_006723687.1:n.-41G>C
XM_011529342.2:c.327G>C	XP_011527644.1:p.Lys109Asn
XM_024451999.1:c.-61G>C	XP_024307767.1:n.-61G>C
XR_001754396.1:n.370G>C
XR_430269.3:n.347G>C
XR_937140.2:n.347G>C
NM_024120.5:c.327G>C MANE Select	NP_077025.2:p.Lys109Asn
NM_001039375.3:c.327G>C	NP_001034464.1:p.Lys109Asn
NM_001352403.2:c.-41G>C	NP_001339332.1:n.-41G>C
NM_001352406.2:c.-255G>C	NP_001339335.1:n.-255G>C
NM_001352407.2:c.-235G>C	NP_001339336.1:n.-235G>C
NR_029377.2:n.368G>C
NR_147978.2:n.368G>C
NR_147979.2:n.368G>C
NR_147980.2:n.368G>C
NR_147981.2:n.502G>C
NR_147982.2:n.502G>C
NR_147983.2:n.502G>C
NM_001352408.2:c.327G>C	NP_001339337.1:p.Lys109Asn