Canonical Allele Identifier: CA408270692

Gene: NDUFAF5

Linked Data

• gnomAD v4: 20-13801533-T-G
• MyVariant Identifiers: chr20:g.13782179T>G (hg19) ; chr20:g.13801533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801533T>G , CM000682.2:g.13801533T>G	GRCh38
NC_000020.10:g.13782179T>G , CM000682.1:g.13782179T>G	GRCh37
NC_000020.9:g.13730179T>G	NCBI36
NG_015811.1:g.21508T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.567T>G MANE Select	ENSP00000367346.5:p.Phe189Leu
ENST00000378081.9:c.567T>G	ENSP00000437325.1:p.Phe189Leu
ENST00000378106.9:c.567T>G	ENSP00000367346.5:p.Phe189Leu
ENST00000463598.1:c.483T>G	ENSP00000420497.1:p.Phe161Leu
ENST00000464269.5:n.240T>G
ENST00000475968.5:n.444T>G
ENST00000476536.5:n.527T>G
ENST00000477732.5:n.502+3033T>G
ENST00000479716.5:n.88T>G
ENST00000481249.5:n.444T>G
ENST00000485738.5:n.544T>G
NM_001039375.2:c.483T>G	NP_001034464.1:p.Phe161Leu
NM_024120.4:c.567T>G	NP_077025.2:p.Phe189Leu
NR_029377.1:n.610T>G
XM_006723620.2:c.567T>G	XP_006723683.1:p.Phe189Leu
XM_006723622.2:c.96T>G	XP_006723685.1:p.Phe32Leu
XM_006723623.1:c.96T>G	XP_006723686.1:p.Phe32Leu
XM_006723624.1:c.96T>G	XP_006723687.1:p.Phe32Leu
XM_011529341.1:c.567T>G	XP_011527643.1:p.Phe189Leu
XM_011529342.1:c.567T>G	XP_011527644.1:p.Phe189Leu
XM_011529343.1:c.567T>G	XP_011527645.1:p.Phe189Leu
XM_011529344.1:c.198T>G	XP_011527646.1:p.Phe66Leu
XR_430269.2:n.587T>G
XR_937140.1:n.587T>G
NM_001352403.1:c.96T>G	NP_001339332.1:p.Phe32Leu
NM_001352406.1:c.6T>G	NP_001339335.1:p.Phe2Leu
NM_001352407.1:c.6T>G	NP_001339336.1:p.Phe2Leu
NM_001352408.1:c.567T>G	NP_001339337.1:p.Phe189Leu
NR_147978.1:n.610T>G
NR_147979.1:n.630T>G
NR_147980.1:n.506T>G
NR_147981.1:n.744T>G
NR_147982.1:n.744T>G
NR_147983.1:n.660T>G
XM_006723624.2:c.96T>G	XP_006723687.1:p.Phe32Leu
XM_011529342.2:c.567T>G	XP_011527644.1:p.Phe189Leu
XM_024451999.1:c.96T>G	XP_024307767.1:p.Phe32Leu
XR_001754396.1:n.526T>G
XR_430269.3:n.587T>G
XR_937140.2:n.587T>G
NM_024120.5:c.567T>G MANE Select	NP_077025.2:p.Phe189Leu
NM_001039375.3:c.483T>G	NP_001034464.1:p.Phe161Leu
NM_001352403.2:c.96T>G	NP_001339332.1:p.Phe32Leu
NM_001352406.2:c.6T>G	NP_001339335.1:p.Phe2Leu
NM_001352407.2:c.6T>G	NP_001339336.1:p.Phe2Leu
NR_029377.2:n.608T>G
NR_147978.2:n.608T>G
NR_147979.2:n.628T>G
NR_147980.2:n.504T>G
NR_147981.2:n.742T>G
NR_147982.2:n.742T>G
NR_147983.2:n.658T>G
NM_001352408.2:c.567T>G	NP_001339337.1:p.Phe189Leu