Canonical Allele Identifier: CA9767866
Community Standard Title: NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter)
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13808899C>T , CM000682.2:g.13808899C>T GRCh38
NC_000020.10:g.13789545C>T , CM000682.1:g.13789545C>T GRCh37
NC_000020.9:g.13737545C>T NCBI36
NG_015811.1:g.28874C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024120.5:c.775C>T MANE Select NP_077025.2:p.Gln259Ter
ENST00000378106.10:c.775C>T MANE Select ENSP00000367346.5:p.Gln259Ter
NM_001039375.2:c.691C>T NP_001034464.1:p.Gln231Ter
NM_001039375.3:c.691C>T NP_001034464.1:p.Gln231Ter
NM_001352403.1:c.304C>T NP_001339332.1:p.Gln102Ter
NM_001352403.2:c.304C>T NP_001339332.1:p.Gln102Ter
NM_001352406.1:c.214C>T NP_001339335.1:p.Gln72Ter
NM_001352406.2:c.214C>T NP_001339335.1:p.Gln72Ter
NM_001352407.1:c.214C>T NP_001339336.1:p.Gln72Ter
NM_001352407.2:c.214C>T NP_001339336.1:p.Gln72Ter
NM_024120.4:c.775C>T NP_077025.2:p.Gln259Ter
NR_029377.1:n.818C>T
NR_029377.2:n.816C>T
NR_147978.1:n.874C>T
NR_147978.2:n.872C>T
NR_147979.1:n.838C>T
NR_147979.2:n.836C>T
NR_147980.1:n.714C>T
NR_147980.2:n.712C>T
NR_147981.1:n.952C>T
NR_147981.2:n.950C>T
NR_147982.1:n.1008C>T
NR_147982.2:n.1006C>T
NR_147983.1:n.868C>T
NR_147983.2:n.866C>T
ENST00000378081.9:c.775C>T ENSP00000437325.1:p.Gln259Ter
ENST00000378106.9:c.775C>T ENSP00000367346.5:p.Gln259Ter
ENST00000463598.1:c.691C>T ENSP00000420497.1:p.Gln231Ter
ENST00000464269.5:n.448C>T
ENST00000475968.5:n.652C>T
ENST00000476536.5:n.735C>T
ENST00000479716.5:n.296C>T
ENST00000481249.5:n.652C>T
ENST00000487478.5:n.255C>T
XM_006723622.2:c.304C>T XP_006723685.1:p.Gln102Ter
XM_006723623.1:c.304C>T XP_006723686.1:p.Gln102Ter
XM_006723624.1:c.304C>T XP_006723687.1:p.Gln102Ter
XM_006723624.2:c.304C>T XP_006723687.1:p.Gln102Ter
XM_011529341.1:c.775C>T XP_011527643.1:p.Gln259Ter
XM_011529343.1:c.775C>T XP_011527645.1:p.Gln259Ter
XM_011529344.1:c.406C>T XP_011527646.1:p.Gln136Ter
XM_024451999.1:c.304C>T XP_024307767.1:p.Gln102Ter
XR_001754396.1:n.734C>T
XR_430269.2:n.851C>T
XR_430269.3:n.851C>T
XR_937140.1:n.795C>T
XR_937140.2:n.795C>T