Canonical Allele Identifier: CA408271002

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782262C>T (hg19) ; chr20:g.13801616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801616C>T , CM000682.2:g.13801616C>T	GRCh38
NC_000020.10:g.13782262C>T , CM000682.1:g.13782262C>T	GRCh37
NC_000020.9:g.13730262C>T	NCBI36
NG_015811.1:g.21591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.650C>T MANE Select	ENSP00000367346.5:p.Ser217Phe
ENST00000378081.9:c.650C>T	ENSP00000437325.1:p.Ser217Phe
ENST00000378106.9:c.650C>T	ENSP00000367346.5:p.Ser217Phe
ENST00000463598.1:c.566C>T	ENSP00000420497.1:p.Ser189Phe
ENST00000464269.5:n.323C>T
ENST00000475968.5:n.527C>T
ENST00000476124.1:n.49C>T
ENST00000476536.5:n.610C>T
ENST00000477732.5:n.502+3116C>T
ENST00000479716.5:n.171C>T
ENST00000481249.5:n.527C>T
ENST00000485738.5:n.627C>T
ENST00000487478.5:n.74C>T
NM_001039375.2:c.566C>T	NP_001034464.1:p.Ser189Phe
NM_024120.4:c.650C>T	NP_077025.2:p.Ser217Phe
NR_029377.1:n.693C>T
XM_006723620.2:c.650C>T	XP_006723683.1:p.Ser217Phe
XM_006723622.2:c.179C>T	XP_006723685.1:p.Ser60Phe
XM_006723623.1:c.179C>T	XP_006723686.1:p.Ser60Phe
XM_006723624.1:c.179C>T	XP_006723687.1:p.Ser60Phe
XM_011529341.1:c.650C>T	XP_011527643.1:p.Ser217Phe
XM_011529342.1:c.650C>T	XP_011527644.1:p.Ser217Phe
XM_011529343.1:c.650C>T	XP_011527645.1:p.Ser217Phe
XM_011529344.1:c.281C>T	XP_011527646.1:p.Ser94Phe
XR_430269.2:n.670C>T
XR_937140.1:n.670C>T
NM_001352403.1:c.179C>T	NP_001339332.1:p.Ser60Phe
NM_001352406.1:c.89C>T	NP_001339335.1:p.Ser30Phe
NM_001352407.1:c.89C>T	NP_001339336.1:p.Ser30Phe
NM_001352408.1:c.650C>T	NP_001339337.1:p.Ser217Phe
NR_147978.1:n.693C>T
NR_147979.1:n.713C>T
NR_147980.1:n.589C>T
NR_147981.1:n.827C>T
NR_147982.1:n.827C>T
NR_147983.1:n.743C>T
XM_006723624.2:c.179C>T	XP_006723687.1:p.Ser60Phe
XM_011529342.2:c.650C>T	XP_011527644.1:p.Ser217Phe
XM_024451999.1:c.179C>T	XP_024307767.1:p.Ser60Phe
XR_001754396.1:n.609C>T
XR_430269.3:n.670C>T
XR_937140.2:n.670C>T
NM_024120.5:c.650C>T MANE Select	NP_077025.2:p.Ser217Phe
NM_001039375.3:c.566C>T	NP_001034464.1:p.Ser189Phe
NM_001352403.2:c.179C>T	NP_001339332.1:p.Ser60Phe
NM_001352406.2:c.89C>T	NP_001339335.1:p.Ser30Phe
NM_001352407.2:c.89C>T	NP_001339336.1:p.Ser30Phe
NR_029377.2:n.691C>T
NR_147978.2:n.691C>T
NR_147979.2:n.711C>T
NR_147980.2:n.587C>T
NR_147981.2:n.825C>T
NR_147982.2:n.825C>T
NR_147983.2:n.741C>T
NM_001352408.2:c.650C>T	NP_001339337.1:p.Ser217Phe