Canonical Allele Identifier: CA408271049

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782276G>T (hg19) ; chr20:g.13801630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801630G>T , CM000682.2:g.13801630G>T	GRCh38
NC_000020.10:g.13782276G>T , CM000682.1:g.13782276G>T	GRCh37
NC_000020.9:g.13730276G>T	NCBI36
NG_015811.1:g.21605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.664G>T MANE Select	ENSP00000367346.5:p.Val222Phe
ENST00000378081.9:c.664G>T	ENSP00000437325.1:p.Val222Phe
ENST00000378106.9:c.664G>T	ENSP00000367346.5:p.Val222Phe
ENST00000463598.1:c.580G>T	ENSP00000420497.1:p.Val194Phe
ENST00000464269.5:n.337G>T
ENST00000475968.5:n.541G>T
ENST00000476124.1:n.63G>T
ENST00000476536.5:n.624G>T
ENST00000477732.5:n.502+3130G>T
ENST00000479716.5:n.185G>T
ENST00000481249.5:n.541G>T
ENST00000485738.5:n.641G>T
ENST00000487478.5:n.88G>T
NM_001039375.2:c.580G>T	NP_001034464.1:p.Val194Phe
NM_024120.4:c.664G>T	NP_077025.2:p.Val222Phe
NR_029377.1:n.707G>T
XM_006723620.2:c.664G>T	XP_006723683.1:p.Val222Phe
XM_006723622.2:c.193G>T	XP_006723685.1:p.Val65Phe
XM_006723623.1:c.193G>T	XP_006723686.1:p.Val65Phe
XM_006723624.1:c.193G>T	XP_006723687.1:p.Val65Phe
XM_011529341.1:c.664G>T	XP_011527643.1:p.Val222Phe
XM_011529342.1:c.664G>T	XP_011527644.1:p.Val222Phe
XM_011529343.1:c.664G>T	XP_011527645.1:p.Val222Phe
XM_011529344.1:c.295G>T	XP_011527646.1:p.Val99Phe
XR_430269.2:n.684G>T
XR_937140.1:n.684G>T
NM_001352403.1:c.193G>T	NP_001339332.1:p.Val65Phe
NM_001352406.1:c.103G>T	NP_001339335.1:p.Val35Phe
NM_001352407.1:c.103G>T	NP_001339336.1:p.Val35Phe
NM_001352408.1:c.664G>T	NP_001339337.1:p.Val222Phe
NR_147978.1:n.707G>T
NR_147979.1:n.727G>T
NR_147980.1:n.603G>T
NR_147981.1:n.841G>T
NR_147982.1:n.841G>T
NR_147983.1:n.757G>T
XM_006723624.2:c.193G>T	XP_006723687.1:p.Val65Phe
XM_011529342.2:c.664G>T	XP_011527644.1:p.Val222Phe
XM_024451999.1:c.193G>T	XP_024307767.1:p.Val65Phe
XR_001754396.1:n.623G>T
XR_430269.3:n.684G>T
XR_937140.2:n.684G>T
NM_024120.5:c.664G>T MANE Select	NP_077025.2:p.Val222Phe
NM_001039375.3:c.580G>T	NP_001034464.1:p.Val194Phe
NM_001352403.2:c.193G>T	NP_001339332.1:p.Val65Phe
NM_001352406.2:c.103G>T	NP_001339335.1:p.Val35Phe
NM_001352407.2:c.103G>T	NP_001339336.1:p.Val35Phe
NR_029377.2:n.705G>T
NR_147978.2:n.705G>T
NR_147979.2:n.725G>T
NR_147980.2:n.601G>T
NR_147981.2:n.839G>T
NR_147982.2:n.839G>T
NR_147983.2:n.755G>T
NM_001352408.2:c.664G>T	NP_001339337.1:p.Val222Phe