Canonical Allele Identifier: CA408271103

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 2217760
• ClinVar RCV Id: RCV002687000
• gnomAD v4: 20-13801646-A-G
• MyVariant Identifiers: chr20:g.13782292A>G (hg19) ; chr20:g.13801646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801646A>G , CM000682.2:g.13801646A>G	GRCh38
NC_000020.10:g.13782292A>G , CM000682.1:g.13782292A>G	GRCh37
NC_000020.9:g.13730292A>G	NCBI36
NG_015811.1:g.21621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.680A>G MANE Select	ENSP00000367346.5:p.His227Arg
ENST00000378081.9:c.680A>G	ENSP00000437325.1:p.His227Arg
ENST00000378106.9:c.680A>G	ENSP00000367346.5:p.His227Arg
ENST00000463598.1:c.596A>G	ENSP00000420497.1:p.His199Arg
ENST00000464269.5:n.353A>G
ENST00000475968.5:n.557A>G
ENST00000476124.1:n.79A>G
ENST00000476536.5:n.640A>G
ENST00000477732.5:n.502+3146A>G
ENST00000479716.5:n.201A>G
ENST00000481249.5:n.557A>G
ENST00000485738.5:n.657A>G
ENST00000487478.5:n.104A>G
NM_001039375.2:c.596A>G	NP_001034464.1:p.His199Arg
NM_024120.4:c.680A>G	NP_077025.2:p.His227Arg
NR_029377.1:n.723A>G
XM_006723620.2:c.680A>G	XP_006723683.1:p.His227Arg
XM_006723622.2:c.209A>G	XP_006723685.1:p.His70Arg
XM_006723623.1:c.209A>G	XP_006723686.1:p.His70Arg
XM_006723624.1:c.209A>G	XP_006723687.1:p.His70Arg
XM_011529341.1:c.680A>G	XP_011527643.1:p.His227Arg
XM_011529342.1:c.680A>G	XP_011527644.1:p.His227Arg
XM_011529343.1:c.680A>G	XP_011527645.1:p.His227Arg
XM_011529344.1:c.311A>G	XP_011527646.1:p.His104Arg
XR_430269.2:n.700A>G
XR_937140.1:n.700A>G
NM_001352403.1:c.209A>G	NP_001339332.1:p.His70Arg
NM_001352406.1:c.119A>G	NP_001339335.1:p.His40Arg
NM_001352407.1:c.119A>G	NP_001339336.1:p.His40Arg
NM_001352408.1:c.680A>G	NP_001339337.1:p.His227Arg
NR_147978.1:n.723A>G
NR_147979.1:n.743A>G
NR_147980.1:n.619A>G
NR_147981.1:n.857A>G
NR_147982.1:n.857A>G
NR_147983.1:n.773A>G
XM_006723624.2:c.209A>G	XP_006723687.1:p.His70Arg
XM_011529342.2:c.680A>G	XP_011527644.1:p.His227Arg
XM_024451999.1:c.209A>G	XP_024307767.1:p.His70Arg
XR_001754396.1:n.639A>G
XR_430269.3:n.700A>G
XR_937140.2:n.700A>G
NM_024120.5:c.680A>G MANE Select	NP_077025.2:p.His227Arg
NM_001039375.3:c.596A>G	NP_001034464.1:p.His199Arg
NM_001352403.2:c.209A>G	NP_001339332.1:p.His70Arg
NM_001352406.2:c.119A>G	NP_001339335.1:p.His40Arg
NM_001352407.2:c.119A>G	NP_001339336.1:p.His40Arg
NR_029377.2:n.721A>G
NR_147978.2:n.721A>G
NR_147979.2:n.741A>G
NR_147980.2:n.617A>G
NR_147981.2:n.855A>G
NR_147982.2:n.855A>G
NR_147983.2:n.771A>G
NM_001352408.2:c.680A>G	NP_001339337.1:p.His227Arg