Canonical Allele Identifier: CA2351374407
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13801677G= , CM000682.2:g.13801677G= GRCh38
NC_000020.10:g.13782323G= , CM000682.1:g.13782323G= GRCh37
NC_000020.9:g.13730323G= NCBI36
NG_015811.1:g.21652G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378106.10:c.711G= MANE Select ENSP00000367346.5:p.Leu237=
ENST00000378081.9:c.711G= ENSP00000437325.1:p.Leu237=
ENST00000378106.9:c.711G= ENSP00000367346.5:p.Leu237=
ENST00000463598.1:c.627G= ENSP00000420497.1:p.Leu209=
ENST00000464269.5:n.384G=
ENST00000475968.5:n.588G=
ENST00000476124.1:n.110G=
ENST00000476536.5:n.671G=
ENST00000477732.5:n.502+3177G=
ENST00000479716.5:n.232G=
ENST00000481249.5:n.588G=
ENST00000485738.5:n.688G=
ENST00000487478.5:n.135G=
NM_001039375.2:c.627G= NP_001034464.1:p.Leu209=
NM_024120.4:c.711G= NP_077025.2:p.Leu237=
NR_029377.1:n.754G=
XM_006723620.2:c.711G= XP_006723683.1:p.Leu237=
XM_006723622.2:c.240G= XP_006723685.1:p.Leu80=
XM_006723623.1:c.240G= XP_006723686.1:p.Leu80=
XM_006723624.1:c.240G= XP_006723687.1:p.Leu80=
XM_011529341.1:c.711G= XP_011527643.1:p.Leu237=
XM_011529342.1:c.711G= XP_011527644.1:p.Leu237=
XM_011529343.1:c.711G= XP_011527645.1:p.Leu237=
XM_011529344.1:c.342G= XP_011527646.1:p.Leu114=
XR_430269.2:n.731G=
XR_937140.1:n.731G=
NM_001352403.1:c.240G= NP_001339332.1:p.Leu80=
NM_001352406.1:c.150G= NP_001339335.1:p.Leu50=
NM_001352407.1:c.150G= NP_001339336.1:p.Leu50=
NM_001352408.1:c.711G= NP_001339337.1:p.Leu237=
NR_147978.1:n.754G=
NR_147979.1:n.774G=
NR_147980.1:n.650G=
NR_147981.1:n.888G=
NR_147982.1:n.888G=
NR_147983.1:n.804G=
XM_006723624.2:c.240G= XP_006723687.1:p.Leu80=
XM_011529342.2:c.711G= XP_011527644.1:p.Leu237=
XM_024451999.1:c.240G= XP_024307767.1:p.Leu80=
XR_001754396.1:n.670G=
XR_430269.3:n.731G=
XR_937140.2:n.731G=
NM_024120.5:c.711G= MANE Select NP_077025.2:p.Leu237=
NM_001039375.3:c.627G= NP_001034464.1:p.Leu209=
NM_001352403.2:c.240G= NP_001339332.1:p.Leu80=
NM_001352406.2:c.150G= NP_001339335.1:p.Leu50=
NM_001352407.2:c.150G= NP_001339336.1:p.Leu50=
NR_029377.2:n.752G=
NR_147978.2:n.752G=
NR_147979.2:n.772G=
NR_147980.2:n.648G=
NR_147981.2:n.886G=
NR_147982.2:n.886G=
NR_147983.2:n.802G=
NM_001352408.2:c.711G= NP_001339337.1:p.Leu237=