Canonical Allele Identifier: CA289770

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13816533G>A , CM000682.2:g.13816533G>A	GRCh38
NC_000020.10:g.13797179G>A , CM000682.1:g.13797179G>A	GRCh37
NC_000020.9:g.13745179G>A	NCBI36
NG_015811.1:g.36508G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024120.5:c.849G>A MANE Select	NP_077025.2:p.Ala283=
ENST00000378106.10:c.849G>A MANE Select	ENSP00000367346.5:p.Ala283=
NM_001039375.2:c.765G>A	NP_001034464.1:p.Ala255=
NM_001039375.3:c.765G>A	NP_001034464.1:p.Ala255=
NM_001352403.1:c.378G>A	NP_001339332.1:p.Ala126=
NM_001352403.2:c.378G>A	NP_001339332.1:p.Ala126=
NM_001352406.1:c.288G>A	NP_001339335.1:p.Ala96=
NM_001352406.2:c.288G>A	NP_001339335.1:p.Ala96=
NM_001352407.1:c.288G>A	NP_001339336.1:p.Ala96=
NM_001352407.2:c.288G>A	NP_001339336.1:p.Ala96=
NM_024120.4:c.849G>A	NP_077025.2:p.Ala283=
NR_029377.1:n.990G>A
NR_029377.2:n.988G>A
NR_147978.1:n.948G>A
NR_147978.2:n.946G>A
NR_147979.1:n.1010G>A
NR_147979.2:n.1008G>A
NR_147980.1:n.886G>A
NR_147980.2:n.884G>A
NR_147981.1:n.1124G>A
NR_147981.2:n.1122G>A
NR_147982.1:n.1180G>A
NR_147982.2:n.1178G>A
NR_147983.1:n.1040G>A
NR_147983.2:n.1038G>A
ENST00000378081.9:c.*143G>A	ENSP00000437325.1:n.*143G>A
ENST00000378106.9:c.849G>A	ENSP00000367346.5:p.Ala283=
ENST00000463598.1:c.765G>A	ENSP00000420497.1:p.Ala255=
ENST00000475968.5:n.726G>A
ENST00000476200.5:n.510G>A
ENST00000479682.5:n.469G>A
ENST00000479716.5:n.300-342G>A
ENST00000487478.5:n.427G>A
XM_006723622.2:c.378G>A	XP_006723685.1:p.Ala126=
XM_006723623.1:c.378G>A	XP_006723686.1:p.Ala126=
XM_006723624.1:c.378G>A	XP_006723687.1:p.Ala126=
XM_006723624.2:c.378G>A	XP_006723687.1:p.Ala126=
XM_011529341.1:c.779-342G>A	XP_011527643.1:n.779-342G>A
XM_011529344.1:c.480G>A	XP_011527646.1:p.Ala160=
XM_024451999.1:c.378G>A	XP_024307767.1:p.Ala126=
XR_001754396.1:n.906G>A
XR_430269.2:n.1023G>A
XR_430269.3:n.1023G>A
XR_937140.1:n.897-342G>A
XR_937140.2:n.897-342G>A