Canonical Allele Identifier: CA408273566

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13816487G>A , CM000682.2:g.13816487G>A	GRCh38
NC_000020.10:g.13797133G>A , CM000682.1:g.13797133G>A	GRCh37
NC_000020.9:g.13745133G>A	NCBI36
NG_015811.1:g.36462G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024120.5:c.803G>A MANE Select	NP_077025.2:p.Trp268Ter
ENST00000378106.10:c.803G>A MANE Select	ENSP00000367346.5:p.Trp268Ter
NM_001039375.2:c.719G>A	NP_001034464.1:p.Trp240Ter
NM_001039375.3:c.719G>A	NP_001034464.1:p.Trp240Ter
NM_001352403.1:c.332G>A	NP_001339332.1:p.Trp111Ter
NM_001352403.2:c.332G>A	NP_001339332.1:p.Trp111Ter
NM_001352406.1:c.242G>A	NP_001339335.1:p.Trp81Ter
NM_001352406.2:c.242G>A	NP_001339335.1:p.Trp81Ter
NM_001352407.1:c.242G>A	NP_001339336.1:p.Trp81Ter
NM_001352407.2:c.242G>A	NP_001339336.1:p.Trp81Ter
NM_024120.4:c.803G>A	NP_077025.2:p.Trp268Ter
NR_029377.1:n.944G>A
NR_029377.2:n.942G>A
NR_147978.1:n.902G>A
NR_147978.2:n.900G>A
NR_147979.1:n.964G>A
NR_147979.2:n.962G>A
NR_147980.1:n.840G>A
NR_147980.2:n.838G>A
NR_147981.1:n.1078G>A
NR_147981.2:n.1076G>A
NR_147982.1:n.1134G>A
NR_147982.2:n.1132G>A
NR_147983.1:n.994G>A
NR_147983.2:n.992G>A
ENST00000378081.9:c.*97G>A	ENSP00000437325.1:n.*97G>A
ENST00000378106.9:c.803G>A	ENSP00000367346.5:p.Trp268Ter
ENST00000463598.1:c.719G>A	ENSP00000420497.1:p.Trp240Ter
ENST00000475968.5:n.680G>A
ENST00000476200.5:n.464G>A
ENST00000479682.5:n.423G>A
ENST00000479716.5:n.300-388G>A
ENST00000487478.5:n.381G>A
XM_006723622.2:c.332G>A	XP_006723685.1:p.Trp111Ter
XM_006723623.1:c.332G>A	XP_006723686.1:p.Trp111Ter
XM_006723624.1:c.332G>A	XP_006723687.1:p.Trp111Ter
XM_006723624.2:c.332G>A	XP_006723687.1:p.Trp111Ter
XM_011529341.1:c.779-388G>A	XP_011527643.1:n.779-388G>A
XM_011529344.1:c.434G>A	XP_011527646.1:p.Trp145Ter
XM_024451999.1:c.332G>A	XP_024307767.1:p.Trp111Ter
XR_001754396.1:n.860G>A
XR_430269.2:n.977G>A
XR_430269.3:n.977G>A
XR_937140.1:n.897-388G>A
XR_937140.2:n.897-388G>A