Canonical Allele Identifier: CA2351377644
Community Standard Title: NM_024120.5(NDUFAF5):c.749G= (p.Gly250=)
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13808873G= , CM000682.2:g.13808873G= GRCh38
NC_000020.10:g.13789519G= , CM000682.1:g.13789519G= GRCh37
NC_000020.9:g.13737519G= NCBI36
NG_015811.1:g.28848G=

Transcript Alleles

HGVS Amino-acid Change
NM_024120.5:c.749G= MANE Select NP_077025.2:p.Gly250=
ENST00000378106.10:c.749G= MANE Select ENSP00000367346.5:p.Gly250=
NM_001039375.2:c.665G= NP_001034464.1:p.Gly222=
NM_001039375.3:c.665G= NP_001034464.1:p.Gly222=
NM_001352403.1:c.278G= NP_001339332.1:p.Gly93=
NM_001352403.2:c.278G= NP_001339332.1:p.Gly93=
NM_001352406.1:c.188G= NP_001339335.1:p.Gly63=
NM_001352406.2:c.188G= NP_001339335.1:p.Gly63=
NM_001352407.1:c.188G= NP_001339336.1:p.Gly63=
NM_001352407.2:c.188G= NP_001339336.1:p.Gly63=
NM_024120.4:c.749G= NP_077025.2:p.Gly250=
NR_029377.1:n.792G=
NR_029377.2:n.790G=
NR_147978.1:n.848G=
NR_147978.2:n.846G=
NR_147979.1:n.812G=
NR_147979.2:n.810G=
NR_147980.1:n.688G=
NR_147980.2:n.686G=
NR_147981.1:n.926G=
NR_147981.2:n.924G=
NR_147982.1:n.982G=
NR_147982.2:n.980G=
NR_147983.1:n.842G=
NR_147983.2:n.840G=
ENST00000378081.9:c.749G= ENSP00000437325.1:p.Gly250=
ENST00000378106.9:c.749G= ENSP00000367346.5:p.Gly250=
ENST00000463598.1:c.665G= ENSP00000420497.1:p.Gly222=
ENST00000464269.5:n.422G=
ENST00000475968.5:n.626G=
ENST00000476536.5:n.709G=
ENST00000477732.5:n.534G=
ENST00000479716.5:n.270G=
ENST00000481249.5:n.626G=
ENST00000487478.5:n.229G=
XM_006723622.2:c.278G= XP_006723685.1:p.Gly93=
XM_006723623.1:c.278G= XP_006723686.1:p.Gly93=
XM_006723624.1:c.278G= XP_006723687.1:p.Gly93=
XM_006723624.2:c.278G= XP_006723687.1:p.Gly93=
XM_011529341.1:c.749G= XP_011527643.1:p.Gly250=
XM_011529343.1:c.749G= XP_011527645.1:p.Gly250=
XM_011529344.1:c.380G= XP_011527646.1:p.Gly127=
XM_024451999.1:c.278G= XP_024307767.1:p.Gly93=
XR_001754396.1:n.708G=
XR_430269.2:n.825G=
XR_430269.3:n.825G=
XR_937140.1:n.769G=
XR_937140.2:n.769G=