Canonical Allele Identifier: CA408270191

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13798470G>A , CM000682.2:g.13798470G>A	GRCh38
NC_000020.10:g.13779116G>A , CM000682.1:g.13779116G>A	GRCh37
NC_000020.9:g.13727116G>A	NCBI36
NG_015811.1:g.18445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024120.5:c.489G>A MANE Select	NP_077025.2:p.Trp163Ter
ENST00000378106.10:c.489G>A MANE Select	ENSP00000367346.5:p.Trp163Ter
NM_001039375.2:c.405G>A	NP_001034464.1:p.Trp135Ter
NM_001039375.3:c.405G>A	NP_001034464.1:p.Trp135Ter
NM_001352403.1:c.18G>A	NP_001339332.1:p.Trp6Ter
NM_001352403.2:c.18G>A	NP_001339332.1:p.Trp6Ter
NM_001352406.1:c.-73G>A	NP_001339335.1:n.-73G>A
NM_001352406.2:c.-73G>A	NP_001339335.1:n.-73G>A
NM_001352407.1:c.-73G>A	NP_001339336.1:n.-73G>A
NM_001352407.2:c.-73G>A	NP_001339336.1:n.-73G>A
NM_001352408.1:c.489G>A	NP_001339337.1:p.Trp163Ter
NM_001352408.2:c.489G>A	NP_001339337.1:p.Trp163Ter
NM_024120.4:c.489G>A	NP_077025.2:p.Trp163Ter
NR_029377.1:n.532G>A
NR_029377.2:n.530G>A
NR_147978.1:n.532G>A
NR_147978.2:n.530G>A
NR_147979.1:n.552G>A
NR_147979.2:n.550G>A
NR_147980.1:n.428G>A
NR_147980.2:n.426G>A
NR_147981.1:n.666G>A
NR_147981.2:n.664G>A
NR_147982.1:n.666G>A
NR_147982.2:n.664G>A
NR_147983.1:n.582G>A
NR_147983.2:n.580G>A
ENST00000378081.9:c.489G>A	ENSP00000437325.1:p.Trp163Ter
ENST00000378106.9:c.489G>A	ENSP00000367346.5:p.Trp163Ter
ENST00000463598.1:c.405G>A	ENSP00000420497.1:p.Trp135Ter
ENST00000464269.5:n.162G>A
ENST00000475968.5:n.366G>A
ENST00000476536.5:n.449G>A
ENST00000477732.5:n.472G>A
ENST00000479716.5:n.10G>A
ENST00000481249.5:n.366G>A
ENST00000485738.5:n.488G>A
XM_006723620.2:c.489G>A	XP_006723683.1:p.Trp163Ter
XM_006723622.2:c.18G>A	XP_006723685.1:p.Trp6Ter
XM_006723623.1:c.18G>A	XP_006723686.1:p.Trp6Ter
XM_006723624.1:c.18G>A	XP_006723687.1:p.Trp6Ter
XM_006723624.2:c.18G>A	XP_006723687.1:p.Trp6Ter
XM_011529341.1:c.489G>A	XP_011527643.1:p.Trp163Ter
XM_011529342.1:c.489G>A	XP_011527644.1:p.Trp163Ter
XM_011529342.2:c.489G>A	XP_011527644.1:p.Trp163Ter
XM_011529343.1:c.489G>A	XP_011527645.1:p.Trp163Ter
XM_011529344.1:c.120G>A	XP_011527646.1:p.Trp40Ter
XM_024451999.1:c.18G>A	XP_024307767.1:p.Trp6Ter
XR_001754396.1:n.448G>A
XR_430269.2:n.509G>A
XR_430269.3:n.509G>A
XR_937140.1:n.509G>A
XR_937140.2:n.509G>A