Canonical Allele Identifier: CA509676356

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782326T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801680T>G , CM000682.2:g.13801680T>G	GRCh38
NC_000020.10:g.13782326T>G , CM000682.1:g.13782326T>G	GRCh37
NC_000020.9:g.13730326T>G	NCBI36
NG_015811.1:g.21655T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.714T>G MANE Select	ENSP00000367346.5:p.Thr238=
ENST00000378081.9:c.714T>G	ENSP00000437325.1:p.Thr238=
ENST00000378106.9:c.714T>G	ENSP00000367346.5:p.Thr238=
ENST00000463598.1:c.630T>G	ENSP00000420497.1:p.Thr210=
ENST00000464269.5:n.387T>G
ENST00000475968.5:n.591T>G
ENST00000476124.1:n.113T>G
ENST00000476536.5:n.674T>G
ENST00000477732.5:n.502+3180T>G
ENST00000479716.5:n.235T>G
ENST00000481249.5:n.591T>G
ENST00000485738.5:n.691T>G
ENST00000487478.5:n.138T>G
NM_001039375.2:c.630T>G	NP_001034464.1:p.Thr210=
NM_024120.4:c.714T>G	NP_077025.2:p.Thr238=
NR_029377.1:n.757T>G
XM_006723620.2:c.714T>G	XP_006723683.1:p.Thr238=
XM_006723622.2:c.243T>G	XP_006723685.1:p.Thr81=
XM_006723623.1:c.243T>G	XP_006723686.1:p.Thr81=
XM_006723624.1:c.243T>G	XP_006723687.1:p.Thr81=
XM_011529341.1:c.714T>G	XP_011527643.1:p.Thr238=
XM_011529342.1:c.714T>G	XP_011527644.1:p.Thr238=
XM_011529343.1:c.714T>G	XP_011527645.1:p.Thr238=
XM_011529344.1:c.345T>G	XP_011527646.1:p.Thr115=
XR_430269.2:n.734T>G
XR_937140.1:n.734T>G
NM_001352403.1:c.243T>G	NP_001339332.1:p.Thr81=
NM_001352406.1:c.153T>G	NP_001339335.1:p.Thr51=
NM_001352407.1:c.153T>G	NP_001339336.1:p.Thr51=
NM_001352408.1:c.714T>G	NP_001339337.1:p.Thr238=
NR_147978.1:n.757T>G
NR_147979.1:n.777T>G
NR_147980.1:n.653T>G
NR_147981.1:n.891T>G
NR_147982.1:n.891T>G
NR_147983.1:n.807T>G
XM_006723624.2:c.243T>G	XP_006723687.1:p.Thr81=
XM_011529342.2:c.714T>G	XP_011527644.1:p.Thr238=
XM_024451999.1:c.243T>G	XP_024307767.1:p.Thr81=
XR_001754396.1:n.673T>G
XR_430269.3:n.734T>G
XR_937140.2:n.734T>G
NM_024120.5:c.714T>G MANE Select	NP_077025.2:p.Thr238=
NM_001039375.3:c.630T>G	NP_001034464.1:p.Thr210=
NM_001352403.2:c.243T>G	NP_001339332.1:p.Thr81=
NM_001352406.2:c.153T>G	NP_001339335.1:p.Thr51=
NM_001352407.2:c.153T>G	NP_001339336.1:p.Thr51=
NR_029377.2:n.755T>G
NR_147978.2:n.755T>G
NR_147979.2:n.775T>G
NR_147980.2:n.651T>G
NR_147981.2:n.889T>G
NR_147982.2:n.889T>G
NR_147983.2:n.805T>G
NM_001352408.2:c.714T>G	NP_001339337.1:p.Thr238=