Canonical Allele Identifier: CA16620917

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 421779
• ClinVar RCV Id: RCV000485687 ; RCV003470573
• dbSNP Id: rs1555834773
• MyVariant Identifiers: chr20:g.13782195dupT (hg19) ; chr20:g.13801549dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801549dup , CM000682.2:g.13801549dup	GRCh38
NC_000020.10:g.13782195dup , CM000682.1:g.13782195dup	GRCh37
NC_000020.9:g.13730195dup	NCBI36
NG_015811.1:g.21524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.583dup MANE Select	ENSP00000367346.5:p.Tyr195LeufsTer2
ENST00000378081.9:c.583dup	ENSP00000437325.1:p.Tyr195LeufsTer2
ENST00000378106.9:c.583dup	ENSP00000367346.5:p.Tyr195LeufsTer2
ENST00000463598.1:c.499dup	ENSP00000420497.1:p.Tyr167LeufsTer2
ENST00000464269.5:n.256dup
ENST00000475968.5:n.460dup
ENST00000476536.5:n.543dup
ENST00000477732.5:n.502+3049dup
ENST00000479716.5:n.104dup
ENST00000481249.5:n.460dup
ENST00000485738.5:n.560dup
ENST00000487478.5:n.7dup
NM_001039375.2:c.499dup	NP_001034464.1:p.Tyr167LeufsTer2
NM_024120.4:c.583dup	NP_077025.2:p.Tyr195LeufsTer2
NR_029377.1:n.626dup
XM_006723620.2:c.583dup	XP_006723683.1:p.Tyr195LeufsTer2
XM_006723622.2:c.112dup	XP_006723685.1:p.Tyr38LeufsTer2
XM_006723623.1:c.112dup	XP_006723686.1:p.Tyr38LeufsTer2
XM_006723624.1:c.112dup	XP_006723687.1:p.Tyr38LeufsTer2
XM_011529341.1:c.583dup	XP_011527643.1:p.Tyr195LeufsTer2
XM_011529342.1:c.583dup	XP_011527644.1:p.Tyr195LeufsTer2
XM_011529343.1:c.583dup	XP_011527645.1:p.Tyr195LeufsTer2
XM_011529344.1:c.214dup	XP_011527646.1:p.Tyr72LeufsTer2
XR_430269.2:n.603dup
XR_937140.1:n.603dup
NM_001352403.1:c.112dup	NP_001339332.1:p.Tyr38LeufsTer2
NM_001352406.1:c.22dup	NP_001339335.1:p.Tyr8LeufsTer2
NM_001352407.1:c.22dup	NP_001339336.1:p.Tyr8LeufsTer2
NM_001352408.1:c.583dup	NP_001339337.1:p.Tyr195LeufsTer2
NR_147978.1:n.626dup
NR_147979.1:n.646dup
NR_147980.1:n.522dup
NR_147981.1:n.760dup
NR_147982.1:n.760dup
NR_147983.1:n.676dup
XM_006723624.2:c.112dup	XP_006723687.1:p.Tyr38LeufsTer2
XM_011529342.2:c.583dup	XP_011527644.1:p.Tyr195LeufsTer2
XM_024451999.1:c.112dup	XP_024307767.1:p.Tyr38LeufsTer2
XR_001754396.1:n.542dup
XR_430269.3:n.603dup
XR_937140.2:n.603dup
NM_024120.5:c.583dup MANE Select	NP_077025.2:p.Tyr195LeufsTer2
NM_001039375.3:c.499dup	NP_001034464.1:p.Tyr167LeufsTer2
NM_001352403.2:c.112dup	NP_001339332.1:p.Tyr38LeufsTer2
NM_001352406.2:c.22dup	NP_001339335.1:p.Tyr8LeufsTer2
NM_001352407.2:c.22dup	NP_001339336.1:p.Tyr8LeufsTer2
NR_029377.2:n.624dup
NR_147978.2:n.624dup
NR_147979.2:n.644dup
NR_147980.2:n.520dup
NR_147981.2:n.758dup
NR_147982.2:n.758dup
NR_147983.2:n.674dup
NM_001352408.2:c.583dup	NP_001339337.1:p.Tyr195LeufsTer2