Canonical Allele Identifier: CA114356
Gene: NDUFAF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 571
ClinVar RCV Id: RCV000000601
dbSNP Id: rs267606689

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13794939A>C , CM000682.2:g.13794939A>C GRCh38
NC_000020.10:g.13775585A>C , CM000682.1:g.13775585A>C GRCh37
NC_000020.9:g.13723585A>C NCBI36
NG_015811.1:g.14914A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378106.10:c.477A>C MANE Select ENSP00000367346.5:p.Leu159Phe
ENST00000378081.9:c.477A>C ENSP00000437325.1:p.Leu159Phe
ENST00000378106.9:c.477A>C ENSP00000367346.5:p.Leu159Phe
ENST00000463598.1:c.395+1712A>C ENSP00000420497.1:n.395+1712A>C
ENST00000464269.5:n.150A>C
ENST00000475968.5:n.356+1712A>C
ENST00000476536.5:n.437A>C
ENST00000477732.5:n.460A>C
ENST00000481249.5:n.356+1712A>C
ENST00000485738.5:n.476A>C
NM_001039375.2:c.395+1712A>C NP_001034464.1:n.395+1712A>C
NM_024120.4:c.477A>C NP_077025.2:p.Leu159Phe
NR_029377.1:n.520A>C
XM_006723620.2:c.477A>C XP_006723683.1:p.Leu159Phe
XM_006723622.2:c.8+1712A>C XP_006723685.1:n.8+1712A>C
XM_006723623.1:c.8+1712A>C XP_006723686.1:n.8+1712A>C
XM_006723624.1:c.8+1712A>C XP_006723687.1:n.8+1712A>C
XM_011529341.1:c.477A>C XP_011527643.1:p.Leu159Phe
XM_011529342.1:c.477A>C XP_011527644.1:p.Leu159Phe
XM_011529343.1:c.477A>C XP_011527645.1:p.Leu159Phe
XM_011529344.1:c.110+1712A>C XP_011527646.1:n.110+1712A>C
XR_430269.2:n.497A>C
XR_937140.1:n.497A>C
NM_001352403.1:c.8+1712A>C NP_001339332.1:n.8+1712A>C
NM_001352406.1:c.-85A>C NP_001339335.1:n.-85A>C
NM_001352407.1:c.-85A>C NP_001339336.1:n.-85A>C
NM_001352408.1:c.477A>C NP_001339337.1:p.Leu159Phe
NR_147978.1:n.520A>C
NR_147979.1:n.540A>C
NR_147980.1:n.418+1712A>C
NR_147981.1:n.654A>C
NR_147982.1:n.654A>C
NR_147983.1:n.572+1712A>C
XM_006723624.2:c.8+1712A>C XP_006723687.1:n.8+1712A>C
XM_011529342.2:c.477A>C XP_011527644.1:p.Leu159Phe
XM_024451999.1:c.8+1712A>C XP_024307767.1:n.8+1712A>C
XR_001754396.1:n.438+1712A>C
XR_430269.3:n.497A>C
XR_937140.2:n.497A>C
NM_024120.5:c.477A>C MANE Select NP_077025.2:p.Leu159Phe
NM_001039375.3:c.395+1712A>C NP_001034464.1:n.395+1712A>C
NM_001352403.2:c.8+1712A>C NP_001339332.1:n.8+1712A>C
NM_001352406.2:c.-85A>C NP_001339335.1:n.-85A>C
NM_001352407.2:c.-85A>C NP_001339336.1:n.-85A>C
NR_029377.2:n.518A>C
NR_147978.2:n.518A>C
NR_147979.2:n.538A>C
NR_147980.2:n.416+1712A>C
NR_147981.2:n.652A>C
NR_147982.2:n.652A>C
NR_147983.2:n.570+1712A>C
NM_001352408.2:c.477A>C NP_001339337.1:p.Leu159Phe