Canonical Allele Identifier: CA9767898

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13816518A>G , CM000682.2:g.13816518A>G	GRCh38
NC_000020.10:g.13797164A>G , CM000682.1:g.13797164A>G	GRCh37
NC_000020.9:g.13745164A>G	NCBI36
NG_015811.1:g.36493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.834A>G MANE Select	ENSP00000367346.5:p.Thr278=
ENST00000378081.9:c.*128A>G	ENSP00000437325.1:n.*128A>G
ENST00000378106.9:c.834A>G	ENSP00000367346.5:p.Thr278=
ENST00000463598.1:c.750A>G	ENSP00000420497.1:p.Thr250=
ENST00000475968.5:n.711A>G
ENST00000476200.5:n.495A>G
ENST00000479682.5:n.454A>G
ENST00000479716.5:n.300-357A>G
ENST00000487478.5:n.412A>G
NM_001039375.2:c.750A>G	NP_001034464.1:p.Thr250=
NM_024120.4:c.834A>G	NP_077025.2:p.Thr278=
NR_029377.1:n.975A>G
XM_006723622.2:c.363A>G	XP_006723685.1:p.Thr121=
XM_006723623.1:c.363A>G	XP_006723686.1:p.Thr121=
XM_006723624.1:c.363A>G	XP_006723687.1:p.Thr121=
XM_011529341.1:c.779-357A>G	XP_011527643.1:n.779-357A>G
XM_011529344.1:c.465A>G	XP_011527646.1:p.Thr155=
XR_430269.2:n.1008A>G
XR_937140.1:n.897-357A>G
NM_001352403.1:c.363A>G	NP_001339332.1:p.Thr121=
NM_001352406.1:c.273A>G	NP_001339335.1:p.Thr91=
NM_001352407.1:c.273A>G	NP_001339336.1:p.Thr91=
NR_147978.1:n.933A>G
NR_147979.1:n.995A>G
NR_147980.1:n.871A>G
NR_147981.1:n.1109A>G
NR_147982.1:n.1165A>G
NR_147983.1:n.1025A>G
XM_006723624.2:c.363A>G	XP_006723687.1:p.Thr121=
XM_024451999.1:c.363A>G	XP_024307767.1:p.Thr121=
XR_001754396.1:n.891A>G
XR_430269.3:n.1008A>G
XR_937140.2:n.897-357A>G
NM_024120.5:c.834A>G MANE Select	NP_077025.2:p.Thr278=
NM_001039375.3:c.750A>G	NP_001034464.1:p.Thr250=
NM_001352403.2:c.363A>G	NP_001339332.1:p.Thr121=
NM_001352406.2:c.273A>G	NP_001339335.1:p.Thr91=
NM_001352407.2:c.273A>G	NP_001339336.1:p.Thr91=
NR_029377.2:n.973A>G
NR_147978.2:n.931A>G
NR_147979.2:n.993A>G
NR_147980.2:n.869A>G
NR_147981.2:n.1107A>G
NR_147982.2:n.1163A>G
NR_147983.2:n.1023A>G