Canonical Allele Identifier: CA408270727

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 2431736
• ClinVar RCV Id: RCV003142373
• MyVariant Identifiers: chr20:g.13782189A>G (hg19) ; chr20:g.13801543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801543A>G , CM000682.2:g.13801543A>G	GRCh38
NC_000020.10:g.13782189A>G , CM000682.1:g.13782189A>G	GRCh37
NC_000020.9:g.13730189A>G	NCBI36
NG_015811.1:g.21518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.577A>G MANE Select	ENSP00000367346.5:p.Thr193Ala
ENST00000378081.9:c.577A>G	ENSP00000437325.1:p.Thr193Ala
ENST00000378106.9:c.577A>G	ENSP00000367346.5:p.Thr193Ala
ENST00000463598.1:c.493A>G	ENSP00000420497.1:p.Thr165Ala
ENST00000464269.5:n.250A>G
ENST00000475968.5:n.454A>G
ENST00000476536.5:n.537A>G
ENST00000477732.5:n.502+3043A>G
ENST00000479716.5:n.98A>G
ENST00000481249.5:n.454A>G
ENST00000485738.5:n.554A>G
ENST00000487478.5:n.1A>G
NM_001039375.2:c.493A>G	NP_001034464.1:p.Thr165Ala
NM_024120.4:c.577A>G	NP_077025.2:p.Thr193Ala
NR_029377.1:n.620A>G
XM_006723620.2:c.577A>G	XP_006723683.1:p.Thr193Ala
XM_006723622.2:c.106A>G	XP_006723685.1:p.Thr36Ala
XM_006723623.1:c.106A>G	XP_006723686.1:p.Thr36Ala
XM_006723624.1:c.106A>G	XP_006723687.1:p.Thr36Ala
XM_011529341.1:c.577A>G	XP_011527643.1:p.Thr193Ala
XM_011529342.1:c.577A>G	XP_011527644.1:p.Thr193Ala
XM_011529343.1:c.577A>G	XP_011527645.1:p.Thr193Ala
XM_011529344.1:c.208A>G	XP_011527646.1:p.Thr70Ala
XR_430269.2:n.597A>G
XR_937140.1:n.597A>G
NM_001352403.1:c.106A>G	NP_001339332.1:p.Thr36Ala
NM_001352406.1:c.16A>G	NP_001339335.1:p.Thr6Ala
NM_001352407.1:c.16A>G	NP_001339336.1:p.Thr6Ala
NM_001352408.1:c.577A>G	NP_001339337.1:p.Thr193Ala
NR_147978.1:n.620A>G
NR_147979.1:n.640A>G
NR_147980.1:n.516A>G
NR_147981.1:n.754A>G
NR_147982.1:n.754A>G
NR_147983.1:n.670A>G
XM_006723624.2:c.106A>G	XP_006723687.1:p.Thr36Ala
XM_011529342.2:c.577A>G	XP_011527644.1:p.Thr193Ala
XM_024451999.1:c.106A>G	XP_024307767.1:p.Thr36Ala
XR_001754396.1:n.536A>G
XR_430269.3:n.597A>G
XR_937140.2:n.597A>G
NM_024120.5:c.577A>G MANE Select	NP_077025.2:p.Thr193Ala
NM_001039375.3:c.493A>G	NP_001034464.1:p.Thr165Ala
NM_001352403.2:c.106A>G	NP_001339332.1:p.Thr36Ala
NM_001352406.2:c.16A>G	NP_001339335.1:p.Thr6Ala
NM_001352407.2:c.16A>G	NP_001339336.1:p.Thr6Ala
NR_029377.2:n.618A>G
NR_147978.2:n.618A>G
NR_147979.2:n.638A>G
NR_147980.2:n.514A>G
NR_147981.2:n.752A>G
NR_147982.2:n.752A>G
NR_147983.2:n.668A>G
NM_001352408.2:c.577A>G	NP_001339337.1:p.Thr193Ala