Canonical Allele Identifier: CA408271184

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs1201184516
• gnomAD v3: 20-13801664-G-A
• gnomAD v4: 20-13801664-G-A
• MyVariant Identifiers: chr20:g.13782310G>A (hg19) ; chr20:g.13801664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801664G>A , CM000682.2:g.13801664G>A	GRCh38
NC_000020.10:g.13782310G>A , CM000682.1:g.13782310G>A	GRCh37
NC_000020.9:g.13730310G>A	NCBI36
NG_015811.1:g.21639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.698G>A MANE Select	ENSP00000367346.5:p.Gly233Asp
ENST00000378081.9:c.698G>A	ENSP00000437325.1:p.Gly233Asp
ENST00000378106.9:c.698G>A	ENSP00000367346.5:p.Gly233Asp
ENST00000463598.1:c.614G>A	ENSP00000420497.1:p.Gly205Asp
ENST00000464269.5:n.371G>A
ENST00000475968.5:n.575G>A
ENST00000476124.1:n.97G>A
ENST00000476536.5:n.658G>A
ENST00000477732.5:n.502+3164G>A
ENST00000479716.5:n.219G>A
ENST00000481249.5:n.575G>A
ENST00000485738.5:n.675G>A
ENST00000487478.5:n.122G>A
NM_001039375.2:c.614G>A	NP_001034464.1:p.Gly205Asp
NM_024120.4:c.698G>A	NP_077025.2:p.Gly233Asp
NR_029377.1:n.741G>A
XM_006723620.2:c.698G>A	XP_006723683.1:p.Gly233Asp
XM_006723622.2:c.227G>A	XP_006723685.1:p.Gly76Asp
XM_006723623.1:c.227G>A	XP_006723686.1:p.Gly76Asp
XM_006723624.1:c.227G>A	XP_006723687.1:p.Gly76Asp
XM_011529341.1:c.698G>A	XP_011527643.1:p.Gly233Asp
XM_011529342.1:c.698G>A	XP_011527644.1:p.Gly233Asp
XM_011529343.1:c.698G>A	XP_011527645.1:p.Gly233Asp
XM_011529344.1:c.329G>A	XP_011527646.1:p.Gly110Asp
XR_430269.2:n.718G>A
XR_937140.1:n.718G>A
NM_001352403.1:c.227G>A	NP_001339332.1:p.Gly76Asp
NM_001352406.1:c.137G>A	NP_001339335.1:p.Gly46Asp
NM_001352407.1:c.137G>A	NP_001339336.1:p.Gly46Asp
NM_001352408.1:c.698G>A	NP_001339337.1:p.Gly233Asp
NR_147978.1:n.741G>A
NR_147979.1:n.761G>A
NR_147980.1:n.637G>A
NR_147981.1:n.875G>A
NR_147982.1:n.875G>A
NR_147983.1:n.791G>A
XM_006723624.2:c.227G>A	XP_006723687.1:p.Gly76Asp
XM_011529342.2:c.698G>A	XP_011527644.1:p.Gly233Asp
XM_024451999.1:c.227G>A	XP_024307767.1:p.Gly76Asp
XR_001754396.1:n.657G>A
XR_430269.3:n.718G>A
XR_937140.2:n.718G>A
NM_024120.5:c.698G>A MANE Select	NP_077025.2:p.Gly233Asp
NM_001039375.3:c.614G>A	NP_001034464.1:p.Gly205Asp
NM_001352403.2:c.227G>A	NP_001339332.1:p.Gly76Asp
NM_001352406.2:c.137G>A	NP_001339335.1:p.Gly46Asp
NM_001352407.2:c.137G>A	NP_001339336.1:p.Gly46Asp
NR_029377.2:n.739G>A
NR_147978.2:n.739G>A
NR_147979.2:n.759G>A
NR_147980.2:n.635G>A
NR_147981.2:n.873G>A
NR_147982.2:n.873G>A
NR_147983.2:n.789G>A
NM_001352408.2:c.698G>A	NP_001339337.1:p.Gly233Asp