Canonical Allele Identifier: CA311386906

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 1582219
• ClinVar RCV Id: RCV002088832
• dbSNP Id: rs142082859
• gnomAD v2: 20-13782167-C-T
• gnomAD v4: 20-13801521-C-T
• MyVariant Identifiers: chr20:g.13782167C>T (hg19) ; chr20:g.13801521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801521C>T , CM000682.2:g.13801521C>T	GRCh38
NC_000020.10:g.13782167C>T , CM000682.1:g.13782167C>T	GRCh37
NC_000020.9:g.13730167C>T	NCBI36
NG_015811.1:g.21496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.555C>T MANE Select	ENSP00000367346.5:p.Ile185=
ENST00000378081.9:c.555C>T	ENSP00000437325.1:p.Ile185=
ENST00000378106.9:c.555C>T	ENSP00000367346.5:p.Ile185=
ENST00000463598.1:c.471C>T	ENSP00000420497.1:p.Ile157=
ENST00000464269.5:n.228C>T
ENST00000475968.5:n.432C>T
ENST00000476536.5:n.515C>T
ENST00000477732.5:n.502+3021C>T
ENST00000479716.5:n.76C>T
ENST00000481249.5:n.432C>T
ENST00000485738.5:n.532C>T
NM_001039375.2:c.471C>T	NP_001034464.1:p.Ile157=
NM_024120.4:c.555C>T	NP_077025.2:p.Ile185=
NR_029377.1:n.598C>T
XM_006723620.2:c.555C>T	XP_006723683.1:p.Ile185=
XM_006723622.2:c.84C>T	XP_006723685.1:p.Ile28=
XM_006723623.1:c.84C>T	XP_006723686.1:p.Ile28=
XM_006723624.1:c.84C>T	XP_006723687.1:p.Ile28=
XM_011529341.1:c.555C>T	XP_011527643.1:p.Ile185=
XM_011529342.1:c.555C>T	XP_011527644.1:p.Ile185=
XM_011529343.1:c.555C>T	XP_011527645.1:p.Ile185=
XM_011529344.1:c.186C>T	XP_011527646.1:p.Ile62=
XR_430269.2:n.575C>T
XR_937140.1:n.575C>T
NM_001352403.1:c.84C>T	NP_001339332.1:p.Ile28=
NM_001352406.1:c.-7C>T	NP_001339335.1:n.-7C>T
NM_001352407.1:c.-7C>T	NP_001339336.1:n.-7C>T
NM_001352408.1:c.555C>T	NP_001339337.1:p.Ile185=
NR_147978.1:n.598C>T
NR_147979.1:n.618C>T
NR_147980.1:n.494C>T
NR_147981.1:n.732C>T
NR_147982.1:n.732C>T
NR_147983.1:n.648C>T
XM_006723624.2:c.84C>T	XP_006723687.1:p.Ile28=
XM_011529342.2:c.555C>T	XP_011527644.1:p.Ile185=
XM_024451999.1:c.84C>T	XP_024307767.1:p.Ile28=
XR_001754396.1:n.514C>T
XR_430269.3:n.575C>T
XR_937140.2:n.575C>T
NM_024120.5:c.555C>T MANE Select	NP_077025.2:p.Ile185=
NM_001039375.3:c.471C>T	NP_001034464.1:p.Ile157=
NM_001352403.2:c.84C>T	NP_001339332.1:p.Ile28=
NM_001352406.2:c.-7C>T	NP_001339335.1:n.-7C>T
NM_001352407.2:c.-7C>T	NP_001339336.1:n.-7C>T
NR_029377.2:n.596C>T
NR_147978.2:n.596C>T
NR_147979.2:n.616C>T
NR_147980.2:n.492C>T
NR_147981.2:n.730C>T
NR_147982.2:n.730C>T
NR_147983.2:n.646C>T
NM_001352408.2:c.555C>T	NP_001339337.1:p.Ile185=