Canonical Allele Identifier: CA408270760

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 1804485
• ClinVar RCV Id: RCV002469786
• dbSNP Id: rs1265153312
• gnomAD v2: 20-13782204-C-T
• gnomAD v3: 20-13801558-C-T
• gnomAD v4: 20-13801558-C-T
• MyVariant Identifiers: chr20:g.13782204C>T (hg19) ; chr20:g.13801558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801558C>T , CM000682.2:g.13801558C>T	GRCh38
NC_000020.10:g.13782204C>T , CM000682.1:g.13782204C>T	GRCh37
NC_000020.9:g.13730204C>T	NCBI36
NG_015811.1:g.21533C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.592C>T MANE Select	ENSP00000367346.5:p.Arg198Trp
ENST00000378081.9:c.592C>T	ENSP00000437325.1:p.Arg198Trp
ENST00000378106.9:c.592C>T	ENSP00000367346.5:p.Arg198Trp
ENST00000463598.1:c.508C>T	ENSP00000420497.1:p.Arg170Trp
ENST00000464269.5:n.265C>T
ENST00000475968.5:n.469C>T
ENST00000476536.5:n.552C>T
ENST00000477732.5:n.502+3058C>T
ENST00000479716.5:n.113C>T
ENST00000481249.5:n.469C>T
ENST00000485738.5:n.569C>T
ENST00000487478.5:n.16C>T
NM_001039375.2:c.508C>T	NP_001034464.1:p.Arg170Trp
NM_024120.4:c.592C>T	NP_077025.2:p.Arg198Trp
NR_029377.1:n.635C>T
XM_006723620.2:c.592C>T	XP_006723683.1:p.Arg198Trp
XM_006723622.2:c.121C>T	XP_006723685.1:p.Arg41Trp
XM_006723623.1:c.121C>T	XP_006723686.1:p.Arg41Trp
XM_006723624.1:c.121C>T	XP_006723687.1:p.Arg41Trp
XM_011529341.1:c.592C>T	XP_011527643.1:p.Arg198Trp
XM_011529342.1:c.592C>T	XP_011527644.1:p.Arg198Trp
XM_011529343.1:c.592C>T	XP_011527645.1:p.Arg198Trp
XM_011529344.1:c.223C>T	XP_011527646.1:p.Arg75Trp
XR_430269.2:n.612C>T
XR_937140.1:n.612C>T
NM_001352403.1:c.121C>T	NP_001339332.1:p.Arg41Trp
NM_001352406.1:c.31C>T	NP_001339335.1:p.Arg11Trp
NM_001352407.1:c.31C>T	NP_001339336.1:p.Arg11Trp
NM_001352408.1:c.592C>T	NP_001339337.1:p.Arg198Trp
NR_147978.1:n.635C>T
NR_147979.1:n.655C>T
NR_147980.1:n.531C>T
NR_147981.1:n.769C>T
NR_147982.1:n.769C>T
NR_147983.1:n.685C>T
XM_006723624.2:c.121C>T	XP_006723687.1:p.Arg41Trp
XM_011529342.2:c.592C>T	XP_011527644.1:p.Arg198Trp
XM_024451999.1:c.121C>T	XP_024307767.1:p.Arg41Trp
XR_001754396.1:n.551C>T
XR_430269.3:n.612C>T
XR_937140.2:n.612C>T
NM_024120.5:c.592C>T MANE Select	NP_077025.2:p.Arg198Trp
NM_001039375.3:c.508C>T	NP_001034464.1:p.Arg170Trp
NM_001352403.2:c.121C>T	NP_001339332.1:p.Arg41Trp
NM_001352406.2:c.31C>T	NP_001339335.1:p.Arg11Trp
NM_001352407.2:c.31C>T	NP_001339336.1:p.Arg11Trp
NR_029377.2:n.633C>T
NR_147978.2:n.633C>T
NR_147979.2:n.653C>T
NR_147980.2:n.529C>T
NR_147981.2:n.767C>T
NR_147982.2:n.767C>T
NR_147983.2:n.683C>T
NM_001352408.2:c.592C>T	NP_001339337.1:p.Arg198Trp