Canonical Allele Identifier: CA16609032

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 383054
• ClinVar RCV Id: RCV000439232 ; RCV000937958 ; RCV003922765
• dbSNP Id: rs372913975
• gnomAD v2: 20-13782209-T-C
• gnomAD v3: 20-13801563-T-C
• gnomAD v4: 20-13801563-T-C
• MyVariant Identifiers: chr20:g.13782209T>C (hg19) ; chr20:g.13801563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801563T>C , CM000682.2:g.13801563T>C	GRCh38
NC_000020.10:g.13782209T>C , CM000682.1:g.13782209T>C	GRCh37
NC_000020.9:g.13730209T>C	NCBI36
NG_015811.1:g.21538T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.597T>C MANE Select	ENSP00000367346.5:p.Cys199=
ENST00000378081.9:c.597T>C	ENSP00000437325.1:p.Cys199=
ENST00000378106.9:c.597T>C	ENSP00000367346.5:p.Cys199=
ENST00000463598.1:c.513T>C	ENSP00000420497.1:p.Cys171=
ENST00000464269.5:n.270T>C
ENST00000475968.5:n.474T>C
ENST00000476536.5:n.557T>C
ENST00000477732.5:n.502+3063T>C
ENST00000479716.5:n.118T>C
ENST00000481249.5:n.474T>C
ENST00000485738.5:n.574T>C
ENST00000487478.5:n.21T>C
NM_001039375.2:c.513T>C	NP_001034464.1:p.Cys171=
NM_024120.4:c.597T>C	NP_077025.2:p.Cys199=
NR_029377.1:n.640T>C
XM_006723620.2:c.597T>C	XP_006723683.1:p.Cys199=
XM_006723622.2:c.126T>C	XP_006723685.1:p.Cys42=
XM_006723623.1:c.126T>C	XP_006723686.1:p.Cys42=
XM_006723624.1:c.126T>C	XP_006723687.1:p.Cys42=
XM_011529341.1:c.597T>C	XP_011527643.1:p.Cys199=
XM_011529342.1:c.597T>C	XP_011527644.1:p.Cys199=
XM_011529343.1:c.597T>C	XP_011527645.1:p.Cys199=
XM_011529344.1:c.228T>C	XP_011527646.1:p.Cys76=
XR_430269.2:n.617T>C
XR_937140.1:n.617T>C
NM_001352403.1:c.126T>C	NP_001339332.1:p.Cys42=
NM_001352406.1:c.36T>C	NP_001339335.1:p.Cys12=
NM_001352407.1:c.36T>C	NP_001339336.1:p.Cys12=
NM_001352408.1:c.597T>C	NP_001339337.1:p.Cys199=
NR_147978.1:n.640T>C
NR_147979.1:n.660T>C
NR_147980.1:n.536T>C
NR_147981.1:n.774T>C
NR_147982.1:n.774T>C
NR_147983.1:n.690T>C
XM_006723624.2:c.126T>C	XP_006723687.1:p.Cys42=
XM_011529342.2:c.597T>C	XP_011527644.1:p.Cys199=
XM_024451999.1:c.126T>C	XP_024307767.1:p.Cys42=
XR_001754396.1:n.556T>C
XR_430269.3:n.617T>C
XR_937140.2:n.617T>C
NM_024120.5:c.597T>C MANE Select	NP_077025.2:p.Cys199=
NM_001039375.3:c.513T>C	NP_001034464.1:p.Cys171=
NM_001352403.2:c.126T>C	NP_001339332.1:p.Cys42=
NM_001352406.2:c.36T>C	NP_001339335.1:p.Cys12=
NM_001352407.2:c.36T>C	NP_001339336.1:p.Cys12=
NR_029377.2:n.638T>C
NR_147978.2:n.638T>C
NR_147979.2:n.658T>C
NR_147980.2:n.534T>C
NR_147981.2:n.772T>C
NR_147982.2:n.772T>C
NR_147983.2:n.688T>C
NM_001352408.2:c.597T>C	NP_001339337.1:p.Cys199=