Canonical Allele Identifier: CA9767782
Community Standard Title: NM_024120.5(NDUFAF5):c.480-3T>G
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13798458T>G , CM000682.2:g.13798458T>G GRCh38
NC_000020.10:g.13779104T>G , CM000682.1:g.13779104T>G GRCh37
NC_000020.9:g.13727104T>G NCBI36
NG_015811.1:g.18433T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024120.5:c.480-3T>G MANE Select NP_077025.2:n.480-3T>G
ENST00000378106.10:c.480-3T>G MANE Select ENSP00000367346.5:n.480-3T>G
NM_001039375.2:c.396-3T>G NP_001034464.1:n.396-3T>G
NM_001039375.3:c.396-3T>G NP_001034464.1:n.396-3T>G
NM_001352403.1:c.9-3T>G NP_001339332.1:n.9-3T>G
NM_001352403.2:c.9-3T>G NP_001339332.1:n.9-3T>G
NM_001352406.1:c.-82-3T>G NP_001339335.1:n.-82-3T>G
NM_001352406.2:c.-82-3T>G NP_001339335.1:n.-82-3T>G
NM_001352407.1:c.-82-3T>G NP_001339336.1:n.-82-3T>G
NM_001352407.2:c.-82-3T>G NP_001339336.1:n.-82-3T>G
NM_001352408.1:c.480-3T>G NP_001339337.1:n.480-3T>G
NM_001352408.2:c.480-3T>G NP_001339337.1:n.480-3T>G
NM_024120.4:c.480-3T>G NP_077025.2:n.480-3T>G
NR_029377.1:n.523-3T>G
NR_029377.2:n.521-3T>G
NR_147978.1:n.523-3T>G
NR_147978.2:n.521-3T>G
NR_147979.1:n.543-3T>G
NR_147979.2:n.541-3T>G
NR_147980.1:n.419-3T>G
NR_147980.2:n.417-3T>G
NR_147981.1:n.657-3T>G
NR_147981.2:n.655-3T>G
NR_147982.1:n.657-3T>G
NR_147982.2:n.655-3T>G
NR_147983.1:n.573-3T>G
NR_147983.2:n.571-3T>G
ENST00000378081.9:c.480-3T>G ENSP00000437325.1:n.480-3T>G
ENST00000378106.9:c.480-3T>G ENSP00000367346.5:n.480-3T>G
ENST00000463598.1:c.396-3T>G ENSP00000420497.1:n.396-3T>G
ENST00000464269.5:n.153-3T>G
ENST00000475968.5:n.357-3T>G
ENST00000476536.5:n.440-3T>G
ENST00000477732.5:n.463-3T>G
ENST00000481249.5:n.357-3T>G
ENST00000485738.5:n.479-3T>G
XM_006723620.2:c.480-3T>G XP_006723683.1:n.480-3T>G
XM_006723622.2:c.9-3T>G XP_006723685.1:n.9-3T>G
XM_006723623.1:c.9-3T>G XP_006723686.1:n.9-3T>G
XM_006723624.1:c.9-3T>G XP_006723687.1:n.9-3T>G
XM_006723624.2:c.9-3T>G XP_006723687.1:n.9-3T>G
XM_011529341.1:c.480-3T>G XP_011527643.1:n.480-3T>G
XM_011529342.1:c.480-3T>G XP_011527644.1:n.480-3T>G
XM_011529342.2:c.480-3T>G XP_011527644.1:n.480-3T>G
XM_011529343.1:c.480-3T>G XP_011527645.1:n.480-3T>G
XM_011529344.1:c.111-3T>G XP_011527646.1:n.111-3T>G
XM_024451999.1:c.9-3T>G XP_024307767.1:n.9-3T>G
XR_001754396.1:n.439-3T>G
XR_430269.2:n.500-3T>G
XR_430269.3:n.500-3T>G
XR_937140.1:n.500-3T>G
XR_937140.2:n.500-3T>G