Canonical Allele Identifier: CA2351374394

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801652T= , CM000682.2:g.13801652T=	GRCh38
NC_000020.10:g.13782298T= , CM000682.1:g.13782298T=	GRCh37
NC_000020.9:g.13730298T=	NCBI36
NG_015811.1:g.21627T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.686T= MANE Select	ENSP00000367346.5:p.Leu229=
ENST00000378081.9:c.686T=	ENSP00000437325.1:p.Leu229=
ENST00000378106.9:c.686T=	ENSP00000367346.5:p.Leu229=
ENST00000463598.1:c.602T=	ENSP00000420497.1:p.Leu201=
ENST00000464269.5:n.359T=
ENST00000475968.5:n.563T=
ENST00000476124.1:n.85T=
ENST00000476536.5:n.646T=
ENST00000477732.5:n.502+3152T=
ENST00000479716.5:n.207T=
ENST00000481249.5:n.563T=
ENST00000485738.5:n.663T=
ENST00000487478.5:n.110T=
NM_001039375.2:c.602T=	NP_001034464.1:p.Leu201=
NM_024120.4:c.686T=	NP_077025.2:p.Leu229=
NR_029377.1:n.729T=
XM_006723620.2:c.686T=	XP_006723683.1:p.Leu229=
XM_006723622.2:c.215T=	XP_006723685.1:p.Leu72=
XM_006723623.1:c.215T=	XP_006723686.1:p.Leu72=
XM_006723624.1:c.215T=	XP_006723687.1:p.Leu72=
XM_011529341.1:c.686T=	XP_011527643.1:p.Leu229=
XM_011529342.1:c.686T=	XP_011527644.1:p.Leu229=
XM_011529343.1:c.686T=	XP_011527645.1:p.Leu229=
XM_011529344.1:c.317T=	XP_011527646.1:p.Leu106=
XR_430269.2:n.706T=
XR_937140.1:n.706T=
NM_001352403.1:c.215T=	NP_001339332.1:p.Leu72=
NM_001352406.1:c.125T=	NP_001339335.1:p.Leu42=
NM_001352407.1:c.125T=	NP_001339336.1:p.Leu42=
NM_001352408.1:c.686T=	NP_001339337.1:p.Leu229=
NR_147978.1:n.729T=
NR_147979.1:n.749T=
NR_147980.1:n.625T=
NR_147981.1:n.863T=
NR_147982.1:n.863T=
NR_147983.1:n.779T=
XM_006723624.2:c.215T=	XP_006723687.1:p.Leu72=
XM_011529342.2:c.686T=	XP_011527644.1:p.Leu229=
XM_024451999.1:c.215T=	XP_024307767.1:p.Leu72=
XR_001754396.1:n.645T=
XR_430269.3:n.706T=
XR_937140.2:n.706T=
NM_024120.5:c.686T= MANE Select	NP_077025.2:p.Leu229=
NM_001039375.3:c.602T=	NP_001034464.1:p.Leu201=
NM_001352403.2:c.215T=	NP_001339332.1:p.Leu72=
NM_001352406.2:c.125T=	NP_001339335.1:p.Leu42=
NM_001352407.2:c.125T=	NP_001339336.1:p.Leu42=
NR_029377.2:n.727T=
NR_147978.2:n.727T=
NR_147979.2:n.747T=
NR_147980.2:n.623T=
NR_147981.2:n.861T=
NR_147982.2:n.861T=
NR_147983.2:n.777T=
NM_001352408.2:c.686T=	NP_001339337.1:p.Leu229=