Canonical Allele Identifier: CA114355
Gene: NDUFAF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 570
dbSNP Id: rs118203929

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13801652T>C , CM000682.2:g.13801652T>C GRCh38
NC_000020.10:g.13782298T>C , CM000682.1:g.13782298T>C GRCh37
NC_000020.9:g.13730298T>C NCBI36
NG_015811.1:g.21627T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378106.10:c.686T>C MANE Select ENSP00000367346.5:p.Leu229Pro
ENST00000378081.9:c.686T>C ENSP00000437325.1:p.Leu229Pro
ENST00000378106.9:c.686T>C ENSP00000367346.5:p.Leu229Pro
ENST00000463598.1:c.602T>C ENSP00000420497.1:p.Leu201Pro
ENST00000464269.5:n.359T>C
ENST00000475968.5:n.563T>C
ENST00000476124.1:n.85T>C
ENST00000476536.5:n.646T>C
ENST00000477732.5:n.502+3152T>C
ENST00000479716.5:n.207T>C
ENST00000481249.5:n.563T>C
ENST00000485738.5:n.663T>C
ENST00000487478.5:n.110T>C
NM_001039375.2:c.602T>C NP_001034464.1:p.Leu201Pro
NM_024120.4:c.686T>C NP_077025.2:p.Leu229Pro
NR_029377.1:n.729T>C
XM_006723620.2:c.686T>C XP_006723683.1:p.Leu229Pro
XM_006723622.2:c.215T>C XP_006723685.1:p.Leu72Pro
XM_006723623.1:c.215T>C XP_006723686.1:p.Leu72Pro
XM_006723624.1:c.215T>C XP_006723687.1:p.Leu72Pro
XM_011529341.1:c.686T>C XP_011527643.1:p.Leu229Pro
XM_011529342.1:c.686T>C XP_011527644.1:p.Leu229Pro
XM_011529343.1:c.686T>C XP_011527645.1:p.Leu229Pro
XM_011529344.1:c.317T>C XP_011527646.1:p.Leu106Pro
XR_430269.2:n.706T>C
XR_937140.1:n.706T>C
NM_001352403.1:c.215T>C NP_001339332.1:p.Leu72Pro
NM_001352406.1:c.125T>C NP_001339335.1:p.Leu42Pro
NM_001352407.1:c.125T>C NP_001339336.1:p.Leu42Pro
NM_001352408.1:c.686T>C NP_001339337.1:p.Leu229Pro
NR_147978.1:n.729T>C
NR_147979.1:n.749T>C
NR_147980.1:n.625T>C
NR_147981.1:n.863T>C
NR_147982.1:n.863T>C
NR_147983.1:n.779T>C
XM_006723624.2:c.215T>C XP_006723687.1:p.Leu72Pro
XM_011529342.2:c.686T>C XP_011527644.1:p.Leu229Pro
XM_024451999.1:c.215T>C XP_024307767.1:p.Leu72Pro
XR_001754396.1:n.645T>C
XR_430269.3:n.706T>C
XR_937140.2:n.706T>C
NM_024120.5:c.686T>C MANE Select NP_077025.2:p.Leu229Pro
NM_001039375.3:c.602T>C NP_001034464.1:p.Leu201Pro
NM_001352403.2:c.215T>C NP_001339332.1:p.Leu72Pro
NM_001352406.2:c.125T>C NP_001339335.1:p.Leu42Pro
NM_001352407.2:c.125T>C NP_001339336.1:p.Leu42Pro
NR_029377.2:n.727T>C
NR_147978.2:n.727T>C
NR_147979.2:n.747T>C
NR_147980.2:n.623T>C
NR_147981.2:n.861T>C
NR_147982.2:n.861T>C
NR_147983.2:n.777T>C
NM_001352408.2:c.686T>C NP_001339337.1:p.Leu229Pro