Canonical Allele Identifier: CA408270770

Gene: NDUFAF5

Linked Data

• gnomAD v4: 20-13801564-T-A
• MyVariant Identifiers: chr20:g.13782210T>A (hg19) ; chr20:g.13801564T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801564T>A , CM000682.2:g.13801564T>A	GRCh38
NC_000020.10:g.13782210T>A , CM000682.1:g.13782210T>A	GRCh37
NC_000020.9:g.13730210T>A	NCBI36
NG_015811.1:g.21539T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.598T>A MANE Select	ENSP00000367346.5:p.Ser200Thr
ENST00000378081.9:c.598T>A	ENSP00000437325.1:p.Ser200Thr
ENST00000378106.9:c.598T>A	ENSP00000367346.5:p.Ser200Thr
ENST00000463598.1:c.514T>A	ENSP00000420497.1:p.Ser172Thr
ENST00000464269.5:n.271T>A
ENST00000475968.5:n.475T>A
ENST00000476536.5:n.558T>A
ENST00000477732.5:n.502+3064T>A
ENST00000479716.5:n.119T>A
ENST00000481249.5:n.475T>A
ENST00000485738.5:n.575T>A
ENST00000487478.5:n.22T>A
NM_001039375.2:c.514T>A	NP_001034464.1:p.Ser172Thr
NM_024120.4:c.598T>A	NP_077025.2:p.Ser200Thr
NR_029377.1:n.641T>A
XM_006723620.2:c.598T>A	XP_006723683.1:p.Ser200Thr
XM_006723622.2:c.127T>A	XP_006723685.1:p.Ser43Thr
XM_006723623.1:c.127T>A	XP_006723686.1:p.Ser43Thr
XM_006723624.1:c.127T>A	XP_006723687.1:p.Ser43Thr
XM_011529341.1:c.598T>A	XP_011527643.1:p.Ser200Thr
XM_011529342.1:c.598T>A	XP_011527644.1:p.Ser200Thr
XM_011529343.1:c.598T>A	XP_011527645.1:p.Ser200Thr
XM_011529344.1:c.229T>A	XP_011527646.1:p.Ser77Thr
XR_430269.2:n.618T>A
XR_937140.1:n.618T>A
NM_001352403.1:c.127T>A	NP_001339332.1:p.Ser43Thr
NM_001352406.1:c.37T>A	NP_001339335.1:p.Ser13Thr
NM_001352407.1:c.37T>A	NP_001339336.1:p.Ser13Thr
NM_001352408.1:c.598T>A	NP_001339337.1:p.Ser200Thr
NR_147978.1:n.641T>A
NR_147979.1:n.661T>A
NR_147980.1:n.537T>A
NR_147981.1:n.775T>A
NR_147982.1:n.775T>A
NR_147983.1:n.691T>A
XM_006723624.2:c.127T>A	XP_006723687.1:p.Ser43Thr
XM_011529342.2:c.598T>A	XP_011527644.1:p.Ser200Thr
XM_024451999.1:c.127T>A	XP_024307767.1:p.Ser43Thr
XR_001754396.1:n.557T>A
XR_430269.3:n.618T>A
XR_937140.2:n.618T>A
NM_024120.5:c.598T>A MANE Select	NP_077025.2:p.Ser200Thr
NM_001039375.3:c.514T>A	NP_001034464.1:p.Ser172Thr
NM_001352403.2:c.127T>A	NP_001339332.1:p.Ser43Thr
NM_001352406.2:c.37T>A	NP_001339335.1:p.Ser13Thr
NM_001352407.2:c.37T>A	NP_001339336.1:p.Ser13Thr
NR_029377.2:n.639T>A
NR_147978.2:n.639T>A
NR_147979.2:n.659T>A
NR_147980.2:n.535T>A
NR_147981.2:n.773T>A
NR_147982.2:n.773T>A
NR_147983.2:n.689T>A
NM_001352408.2:c.598T>A	NP_001339337.1:p.Ser200Thr