Canonical Allele Identifier: CA9767821

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 1321429
• ClinVar RCV Id: RCV001779523 ; RCV002307759 ; RCV003470897
• dbSNP Id: rs368690277
• ExAC: 20:13782216 C / T
• gnomAD v2: 20-13782216-C-T
• gnomAD v3: 20-13801570-C-T
• gnomAD v4: 20-13801570-C-T
• MyVariant Identifiers: chr20:g.13782216C>T (hg19) ; chr20:g.13801570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801570C>T , CM000682.2:g.13801570C>T	GRCh38
NC_000020.10:g.13782216C>T , CM000682.1:g.13782216C>T	GRCh37
NC_000020.9:g.13730216C>T	NCBI36
NG_015811.1:g.21545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.604C>T MANE Select	ENSP00000367346.5:p.Gln202Ter
ENST00000378081.9:c.604C>T	ENSP00000437325.1:p.Gln202Ter
ENST00000378106.9:c.604C>T	ENSP00000367346.5:p.Gln202Ter
ENST00000463598.1:c.520C>T	ENSP00000420497.1:p.Gln174Ter
ENST00000464269.5:n.277C>T
ENST00000475968.5:n.481C>T
ENST00000476124.1:n.3C>T
ENST00000476536.5:n.564C>T
ENST00000477732.5:n.502+3070C>T
ENST00000479716.5:n.125C>T
ENST00000481249.5:n.481C>T
ENST00000485738.5:n.581C>T
ENST00000487478.5:n.28C>T
NM_001039375.2:c.520C>T	NP_001034464.1:p.Gln174Ter
NM_024120.4:c.604C>T	NP_077025.2:p.Gln202Ter
NR_029377.1:n.647C>T
XM_006723620.2:c.604C>T	XP_006723683.1:p.Gln202Ter
XM_006723622.2:c.133C>T	XP_006723685.1:p.Gln45Ter
XM_006723623.1:c.133C>T	XP_006723686.1:p.Gln45Ter
XM_006723624.1:c.133C>T	XP_006723687.1:p.Gln45Ter
XM_011529341.1:c.604C>T	XP_011527643.1:p.Gln202Ter
XM_011529342.1:c.604C>T	XP_011527644.1:p.Gln202Ter
XM_011529343.1:c.604C>T	XP_011527645.1:p.Gln202Ter
XM_011529344.1:c.235C>T	XP_011527646.1:p.Gln79Ter
XR_430269.2:n.624C>T
XR_937140.1:n.624C>T
NM_001352403.1:c.133C>T	NP_001339332.1:p.Gln45Ter
NM_001352406.1:c.43C>T	NP_001339335.1:p.Gln15Ter
NM_001352407.1:c.43C>T	NP_001339336.1:p.Gln15Ter
NM_001352408.1:c.604C>T	NP_001339337.1:p.Gln202Ter
NR_147978.1:n.647C>T
NR_147979.1:n.667C>T
NR_147980.1:n.543C>T
NR_147981.1:n.781C>T
NR_147982.1:n.781C>T
NR_147983.1:n.697C>T
XM_006723624.2:c.133C>T	XP_006723687.1:p.Gln45Ter
XM_011529342.2:c.604C>T	XP_011527644.1:p.Gln202Ter
XM_024451999.1:c.133C>T	XP_024307767.1:p.Gln45Ter
XR_001754396.1:n.563C>T
XR_430269.3:n.624C>T
XR_937140.2:n.624C>T
NM_024120.5:c.604C>T MANE Select	NP_077025.2:p.Gln202Ter
NM_001039375.3:c.520C>T	NP_001034464.1:p.Gln174Ter
NM_001352403.2:c.133C>T	NP_001339332.1:p.Gln45Ter
NM_001352406.2:c.43C>T	NP_001339335.1:p.Gln15Ter
NM_001352407.2:c.43C>T	NP_001339336.1:p.Gln15Ter
NR_029377.2:n.645C>T
NR_147978.2:n.645C>T
NR_147979.2:n.665C>T
NR_147980.2:n.541C>T
NR_147981.2:n.779C>T
NR_147982.2:n.779C>T
NR_147983.2:n.695C>T
NM_001352408.2:c.604C>T	NP_001339337.1:p.Gln202Ter