Canonical Allele Identifier: CA9767906
Community Standard Title: NM_024120.5(NDUFAF5):c.862+14A>G
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13816560A>G , CM000682.2:g.13816560A>G GRCh38
NC_000020.10:g.13797206A>G , CM000682.1:g.13797206A>G GRCh37
NC_000020.9:g.13745206A>G NCBI36
NG_015811.1:g.36535A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024120.5:c.862+14A>G MANE Select NP_077025.2:n.862+14A>G
ENST00000378106.10:c.862+14A>G MANE Select ENSP00000367346.5:n.862+14A>G
NM_001039375.2:c.778+14A>G NP_001034464.1:n.778+14A>G
NM_001039375.3:c.778+14A>G NP_001034464.1:n.778+14A>G
NM_001352403.1:c.391+14A>G NP_001339332.1:n.391+14A>G
NM_001352403.2:c.391+14A>G NP_001339332.1:n.391+14A>G
NM_001352406.1:c.301+14A>G NP_001339335.1:n.301+14A>G
NM_001352406.2:c.301+14A>G NP_001339335.1:n.301+14A>G
NM_001352407.1:c.301+14A>G NP_001339336.1:n.301+14A>G
NM_001352407.2:c.301+14A>G NP_001339336.1:n.301+14A>G
NM_024120.4:c.862+14A>G NP_077025.2:n.862+14A>G
NR_029377.1:n.1003+14A>G
NR_029377.2:n.1001+14A>G
NR_147978.1:n.961+14A>G
NR_147978.2:n.959+14A>G
NR_147979.1:n.1023+14A>G
NR_147979.2:n.1021+14A>G
NR_147980.1:n.899+14A>G
NR_147980.2:n.897+14A>G
NR_147981.1:n.1137+14A>G
NR_147981.2:n.1135+14A>G
NR_147982.1:n.1193+14A>G
NR_147982.2:n.1191+14A>G
NR_147983.1:n.1053+14A>G
NR_147983.2:n.1051+14A>G
ENST00000378081.9:c.*156+14A>G ENSP00000437325.1:n.*156+14A>G
ENST00000378106.9:c.862+14A>G ENSP00000367346.5:n.862+14A>G
ENST00000463598.1:c.778+14A>G ENSP00000420497.1:n.778+14A>G
ENST00000475968.5:n.739+14A>G
ENST00000476200.5:n.523+14A>G
ENST00000479682.5:n.482+14A>G
ENST00000479716.5:n.300-315A>G
ENST00000487478.5:n.440+14A>G
XM_006723622.2:c.391+14A>G XP_006723685.1:n.391+14A>G
XM_006723623.1:c.391+14A>G XP_006723686.1:n.391+14A>G
XM_006723624.1:c.391+14A>G XP_006723687.1:n.391+14A>G
XM_006723624.2:c.391+14A>G XP_006723687.1:n.391+14A>G
XM_011529341.1:c.779-315A>G XP_011527643.1:n.779-315A>G
XM_011529344.1:c.493+14A>G XP_011527646.1:n.493+14A>G
XM_024451999.1:c.391+14A>G XP_024307767.1:n.391+14A>G
XR_001754396.1:n.919+14A>G
XR_430269.2:n.1036+14A>G
XR_430269.3:n.1036+14A>G
XR_937140.1:n.897-315A>G
XR_937140.2:n.897-315A>G