Canonical Allele Identifier: CA9767895

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13816510C>T , CM000682.2:g.13816510C>T	GRCh38
NC_000020.10:g.13797156C>T , CM000682.1:g.13797156C>T	GRCh37
NC_000020.9:g.13745156C>T	NCBI36
NG_015811.1:g.36485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.826C>T MANE Select	ENSP00000367346.5:p.Arg276Ter
ENST00000378081.9:c.*120C>T	ENSP00000437325.1:n.*120C>T
ENST00000378106.9:c.826C>T	ENSP00000367346.5:p.Arg276Ter
ENST00000463598.1:c.742C>T	ENSP00000420497.1:p.Arg248Ter
ENST00000475968.5:n.703C>T
ENST00000476200.5:n.487C>T
ENST00000479682.5:n.446C>T
ENST00000479716.5:n.300-365C>T
ENST00000487478.5:n.404C>T
NM_001039375.2:c.742C>T	NP_001034464.1:p.Arg248Ter
NM_024120.4:c.826C>T	NP_077025.2:p.Arg276Ter
NR_029377.1:n.967C>T
XM_006723622.2:c.355C>T	XP_006723685.1:p.Arg119Ter
XM_006723623.1:c.355C>T	XP_006723686.1:p.Arg119Ter
XM_006723624.1:c.355C>T	XP_006723687.1:p.Arg119Ter
XM_011529341.1:c.779-365C>T	XP_011527643.1:n.779-365C>T
XM_011529344.1:c.457C>T	XP_011527646.1:p.Arg153Ter
XR_430269.2:n.1000C>T
XR_937140.1:n.897-365C>T
NM_001352403.1:c.355C>T	NP_001339332.1:p.Arg119Ter
NM_001352406.1:c.265C>T	NP_001339335.1:p.Arg89Ter
NM_001352407.1:c.265C>T	NP_001339336.1:p.Arg89Ter
NR_147978.1:n.925C>T
NR_147979.1:n.987C>T
NR_147980.1:n.863C>T
NR_147981.1:n.1101C>T
NR_147982.1:n.1157C>T
NR_147983.1:n.1017C>T
XM_006723624.2:c.355C>T	XP_006723687.1:p.Arg119Ter
XM_024451999.1:c.355C>T	XP_024307767.1:p.Arg119Ter
XR_001754396.1:n.883C>T
XR_430269.3:n.1000C>T
XR_937140.2:n.897-365C>T
NM_024120.5:c.826C>T MANE Select	NP_077025.2:p.Arg276Ter
NM_001039375.3:c.742C>T	NP_001034464.1:p.Arg248Ter
NM_001352403.2:c.355C>T	NP_001339332.1:p.Arg119Ter
NM_001352406.2:c.265C>T	NP_001339335.1:p.Arg89Ter
NM_001352407.2:c.265C>T	NP_001339336.1:p.Arg89Ter
NR_029377.2:n.965C>T
NR_147978.2:n.923C>T
NR_147979.2:n.985C>T
NR_147980.2:n.861C>T
NR_147981.2:n.1099C>T
NR_147982.2:n.1155C>T
NR_147983.2:n.1015C>T