Canonical Allele Identifier: CA408270543

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782153G>A (hg19) ; chr20:g.13801507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801507G>A , CM000682.2:g.13801507G>A	GRCh38
NC_000020.10:g.13782153G>A , CM000682.1:g.13782153G>A	GRCh37
NC_000020.9:g.13730153G>A	NCBI36
NG_015811.1:g.21482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.541G>A MANE Select	ENSP00000367346.5:p.Asp181Asn
ENST00000378081.9:c.541G>A	ENSP00000437325.1:p.Asp181Asn
ENST00000378106.9:c.541G>A	ENSP00000367346.5:p.Asp181Asn
ENST00000463598.1:c.457G>A	ENSP00000420497.1:p.Asp153Asn
ENST00000464269.5:n.214G>A
ENST00000475968.5:n.418G>A
ENST00000476536.5:n.501G>A
ENST00000477732.5:n.502+3007G>A
ENST00000479716.5:n.62G>A
ENST00000481249.5:n.418G>A
ENST00000485738.5:n.519-1G>A
NM_001039375.2:c.457G>A	NP_001034464.1:p.Asp153Asn
NM_024120.4:c.541G>A	NP_077025.2:p.Asp181Asn
NR_029377.1:n.584G>A
XM_006723620.2:c.541G>A	XP_006723683.1:p.Asp181Asn
XM_006723622.2:c.70G>A	XP_006723685.1:p.Asp24Asn
XM_006723623.1:c.70G>A	XP_006723686.1:p.Asp24Asn
XM_006723624.1:c.70G>A	XP_006723687.1:p.Asp24Asn
XM_011529341.1:c.541G>A	XP_011527643.1:p.Asp181Asn
XM_011529342.1:c.541G>A	XP_011527644.1:p.Asp181Asn
XM_011529343.1:c.541G>A	XP_011527645.1:p.Asp181Asn
XM_011529344.1:c.172G>A	XP_011527646.1:p.Asp58Asn
XR_430269.2:n.561G>A
XR_937140.1:n.561G>A
NM_001352403.1:c.70G>A	NP_001339332.1:p.Asp24Asn
NM_001352406.1:c.-21G>A	NP_001339335.1:n.-21G>A
NM_001352407.1:c.-21G>A	NP_001339336.1:n.-21G>A
NM_001352408.1:c.541G>A	NP_001339337.1:p.Asp181Asn
NR_147978.1:n.584G>A
NR_147979.1:n.604G>A
NR_147980.1:n.480G>A
NR_147981.1:n.718G>A
NR_147982.1:n.718G>A
NR_147983.1:n.634G>A
XM_006723624.2:c.70G>A	XP_006723687.1:p.Asp24Asn
XM_011529342.2:c.541G>A	XP_011527644.1:p.Asp181Asn
XM_024451999.1:c.70G>A	XP_024307767.1:p.Asp24Asn
XR_001754396.1:n.500G>A
XR_430269.3:n.561G>A
XR_937140.2:n.561G>A
NM_024120.5:c.541G>A MANE Select	NP_077025.2:p.Asp181Asn
NM_001039375.3:c.457G>A	NP_001034464.1:p.Asp153Asn
NM_001352403.2:c.70G>A	NP_001339332.1:p.Asp24Asn
NM_001352406.2:c.-21G>A	NP_001339335.1:n.-21G>A
NM_001352407.2:c.-21G>A	NP_001339336.1:n.-21G>A
NR_029377.2:n.582G>A
NR_147978.2:n.582G>A
NR_147979.2:n.602G>A
NR_147980.2:n.478G>A
NR_147981.2:n.716G>A
NR_147982.2:n.716G>A
NR_147983.2:n.632G>A
NM_001352408.2:c.541G>A	NP_001339337.1:p.Asp181Asn