Canonical Allele Identifier: CA408271153

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782305A>C (hg19) ; chr20:g.13801659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801659A>C , CM000682.2:g.13801659A>C	GRCh38
NC_000020.10:g.13782305A>C , CM000682.1:g.13782305A>C	GRCh37
NC_000020.9:g.13730305A>C	NCBI36
NG_015811.1:g.21634A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.693A>C MANE Select	ENSP00000367346.5:p.Arg231Ser
ENST00000378081.9:c.693A>C	ENSP00000437325.1:p.Arg231Ser
ENST00000378106.9:c.693A>C	ENSP00000367346.5:p.Arg231Ser
ENST00000463598.1:c.609A>C	ENSP00000420497.1:p.Arg203Ser
ENST00000464269.5:n.366A>C
ENST00000475968.5:n.570A>C
ENST00000476124.1:n.92A>C
ENST00000476536.5:n.653A>C
ENST00000477732.5:n.502+3159A>C
ENST00000479716.5:n.214A>C
ENST00000481249.5:n.570A>C
ENST00000485738.5:n.670A>C
ENST00000487478.5:n.117A>C
NM_001039375.2:c.609A>C	NP_001034464.1:p.Arg203Ser
NM_024120.4:c.693A>C	NP_077025.2:p.Arg231Ser
NR_029377.1:n.736A>C
XM_006723620.2:c.693A>C	XP_006723683.1:p.Arg231Ser
XM_006723622.2:c.222A>C	XP_006723685.1:p.Arg74Ser
XM_006723623.1:c.222A>C	XP_006723686.1:p.Arg74Ser
XM_006723624.1:c.222A>C	XP_006723687.1:p.Arg74Ser
XM_011529341.1:c.693A>C	XP_011527643.1:p.Arg231Ser
XM_011529342.1:c.693A>C	XP_011527644.1:p.Arg231Ser
XM_011529343.1:c.693A>C	XP_011527645.1:p.Arg231Ser
XM_011529344.1:c.324A>C	XP_011527646.1:p.Arg108Ser
XR_430269.2:n.713A>C
XR_937140.1:n.713A>C
NM_001352403.1:c.222A>C	NP_001339332.1:p.Arg74Ser
NM_001352406.1:c.132A>C	NP_001339335.1:p.Arg44Ser
NM_001352407.1:c.132A>C	NP_001339336.1:p.Arg44Ser
NM_001352408.1:c.693A>C	NP_001339337.1:p.Arg231Ser
NR_147978.1:n.736A>C
NR_147979.1:n.756A>C
NR_147980.1:n.632A>C
NR_147981.1:n.870A>C
NR_147982.1:n.870A>C
NR_147983.1:n.786A>C
XM_006723624.2:c.222A>C	XP_006723687.1:p.Arg74Ser
XM_011529342.2:c.693A>C	XP_011527644.1:p.Arg231Ser
XM_024451999.1:c.222A>C	XP_024307767.1:p.Arg74Ser
XR_001754396.1:n.652A>C
XR_430269.3:n.713A>C
XR_937140.2:n.713A>C
NM_024120.5:c.693A>C MANE Select	NP_077025.2:p.Arg231Ser
NM_001039375.3:c.609A>C	NP_001034464.1:p.Arg203Ser
NM_001352403.2:c.222A>C	NP_001339332.1:p.Arg74Ser
NM_001352406.2:c.132A>C	NP_001339335.1:p.Arg44Ser
NM_001352407.2:c.132A>C	NP_001339336.1:p.Arg44Ser
NR_029377.2:n.734A>C
NR_147978.2:n.734A>C
NR_147979.2:n.754A>C
NR_147980.2:n.630A>C
NR_147981.2:n.868A>C
NR_147982.2:n.868A>C
NR_147983.2:n.784A>C
NM_001352408.2:c.693A>C	NP_001339337.1:p.Arg231Ser