Canonical Allele Identifier: CA408274544

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13816938G>A , CM000682.2:g.13816938G>A	GRCh38
NC_000020.10:g.13797584G>A , CM000682.1:g.13797584G>A	GRCh37
NC_000020.9:g.13745584G>A	NCBI36
NG_015811.1:g.36913G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024120.5:c.926G>A MANE Select	NP_077025.2:p.Trp309Ter
ENST00000378106.10:c.926G>A MANE Select	ENSP00000367346.5:p.Trp309Ter
NM_001039375.2:c.842G>A	NP_001034464.1:p.Trp281Ter
NM_001039375.3:c.842G>A	NP_001034464.1:p.Trp281Ter
NM_001352403.1:c.455G>A	NP_001339332.1:p.Trp152Ter
NM_001352403.2:c.455G>A	NP_001339332.1:p.Trp152Ter
NM_001352406.1:c.365G>A	NP_001339335.1:p.Trp122Ter
NM_001352406.2:c.365G>A	NP_001339335.1:p.Trp122Ter
NM_001352407.1:c.365G>A	NP_001339336.1:p.Trp122Ter
NM_001352407.2:c.365G>A	NP_001339336.1:p.Trp122Ter
NM_024120.4:c.926G>A	NP_077025.2:p.Trp309Ter
NR_029377.1:n.1067G>A
NR_029377.2:n.1065G>A
NR_147978.1:n.1025G>A
NR_147978.2:n.1023G>A
NR_147979.1:n.1087G>A
NR_147979.2:n.1085G>A
NR_147980.1:n.963G>A
NR_147980.2:n.961G>A
NR_147981.1:n.1201G>A
NR_147981.2:n.1199G>A
NR_147982.1:n.1257G>A
NR_147982.2:n.1255G>A
NR_147983.1:n.1117G>A
NR_147983.2:n.1115G>A
ENST00000378081.9:c.*220G>A	ENSP00000437325.1:n.*220G>A
ENST00000378106.9:c.926G>A	ENSP00000367346.5:p.Trp309Ter
ENST00000463598.1:c.842G>A	ENSP00000420497.1:p.Trp281Ter
ENST00000475968.5:n.803G>A
ENST00000476200.5:n.587G>A
ENST00000479682.5:n.546G>A
ENST00000479716.5:n.363G>A
ENST00000486772.1:n.281G>A
ENST00000487478.5:n.504G>A
XM_006723622.2:c.455G>A	XP_006723685.1:p.Trp152Ter
XM_006723623.1:c.455G>A	XP_006723686.1:p.Trp152Ter
XM_006723624.1:c.455G>A	XP_006723687.1:p.Trp152Ter
XM_006723624.2:c.455G>A	XP_006723687.1:p.Trp152Ter
XM_011529341.1:c.842G>A	XP_011527643.1:p.Trp281Ter
XM_011529344.1:c.557G>A	XP_011527646.1:p.Trp186Ter
XM_024451999.1:c.455G>A	XP_024307767.1:p.Trp152Ter
XR_001754396.1:n.983G>A
XR_430269.2:n.1100G>A
XR_430269.3:n.1100G>A
XR_937140.1:n.960G>A
XR_937140.2:n.960G>A