Canonical Allele Identifier: CA2651946584

Gene: NDUFAF5

Linked Data

• gnomAD v4: 20-13801458-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801458T>C , CM000682.2:g.13801458T>C	GRCh38
NC_000020.10:g.13782104T>C , CM000682.1:g.13782104T>C	GRCh37
NC_000020.9:g.13730104T>C	NCBI36
NG_015811.1:g.21433T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.520-28T>C MANE Select	ENSP00000367346.5:n.520-28T>C
ENST00000378081.9:c.520-28T>C	ENSP00000437325.1:n.520-28T>C
ENST00000378106.9:c.520-28T>C	ENSP00000367346.5:n.520-28T>C
ENST00000463598.1:c.436-28T>C	ENSP00000420497.1:n.436-28T>C
ENST00000464269.5:n.193-28T>C
ENST00000475968.5:n.397-28T>C
ENST00000476536.5:n.480-28T>C
ENST00000477732.5:n.502+2958T>C
ENST00000479716.5:n.41-28T>C
ENST00000481249.5:n.397-28T>C
ENST00000485738.5:n.519-50T>C
NM_001039375.2:c.436-28T>C	NP_001034464.1:n.436-28T>C
NM_024120.4:c.520-28T>C	NP_077025.2:n.520-28T>C
NR_029377.1:n.563-28T>C
XM_006723620.2:c.520-28T>C	XP_006723683.1:n.520-28T>C
XM_006723622.2:c.49-28T>C	XP_006723685.1:n.49-28T>C
XM_006723623.1:c.49-28T>C	XP_006723686.1:n.49-28T>C
XM_006723624.1:c.49-28T>C	XP_006723687.1:n.49-28T>C
XM_011529341.1:c.520-28T>C	XP_011527643.1:n.520-28T>C
XM_011529342.1:c.520-28T>C	XP_011527644.1:n.520-28T>C
XM_011529343.1:c.520-28T>C	XP_011527645.1:n.520-28T>C
XM_011529344.1:c.151-28T>C	XP_011527646.1:n.151-28T>C
XR_430269.2:n.540-28T>C
XR_937140.1:n.540-28T>C
NM_001352403.1:c.49-28T>C	NP_001339332.1:n.49-28T>C
NM_001352406.1:c.-42-28T>C	NP_001339335.1:n.-42-28T>C
NM_001352407.1:c.-42-28T>C	NP_001339336.1:n.-42-28T>C
NM_001352408.1:c.520-28T>C	NP_001339337.1:n.520-28T>C
NR_147978.1:n.563-28T>C
NR_147979.1:n.583-28T>C
NR_147980.1:n.459-28T>C
NR_147981.1:n.697-28T>C
NR_147982.1:n.697-28T>C
NR_147983.1:n.613-28T>C
XM_006723624.2:c.49-28T>C	XP_006723687.1:n.49-28T>C
XM_011529342.2:c.520-28T>C	XP_011527644.1:n.520-28T>C
XM_024451999.1:c.49-28T>C	XP_024307767.1:n.49-28T>C
XR_001754396.1:n.479-28T>C
XR_430269.3:n.540-28T>C
XR_937140.2:n.540-28T>C
NM_024120.5:c.520-28T>C MANE Select	NP_077025.2:n.520-28T>C
NM_001039375.3:c.436-28T>C	NP_001034464.1:n.436-28T>C
NM_001352403.2:c.49-28T>C	NP_001339332.1:n.49-28T>C
NM_001352406.2:c.-42-28T>C	NP_001339335.1:n.-42-28T>C
NM_001352407.2:c.-42-28T>C	NP_001339336.1:n.-42-28T>C
NR_029377.2:n.561-28T>C
NR_147978.2:n.561-28T>C
NR_147979.2:n.581-28T>C
NR_147980.2:n.457-28T>C
NR_147981.2:n.695-28T>C
NR_147982.2:n.695-28T>C
NR_147983.2:n.611-28T>C
NM_001352408.2:c.520-28T>C	NP_001339337.1:n.520-28T>C