Canonical Allele Identifier: CA311387010

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs201512731
• gnomAD v2: 20-13782208-G-T
• gnomAD v4: 20-13801562-G-T
• MyVariant Identifiers: chr20:g.13782208G>T (hg19) ; chr20:g.13801562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801562G>T , CM000682.2:g.13801562G>T	GRCh38
NC_000020.10:g.13782208G>T , CM000682.1:g.13782208G>T	GRCh37
NC_000020.9:g.13730208G>T	NCBI36
NG_015811.1:g.21537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.596G>T MANE Select	ENSP00000367346.5:p.Cys199Phe
ENST00000378081.9:c.596G>T	ENSP00000437325.1:p.Cys199Phe
ENST00000378106.9:c.596G>T	ENSP00000367346.5:p.Cys199Phe
ENST00000463598.1:c.512G>T	ENSP00000420497.1:p.Cys171Phe
ENST00000464269.5:n.269G>T
ENST00000475968.5:n.473G>T
ENST00000476536.5:n.556G>T
ENST00000477732.5:n.502+3062G>T
ENST00000479716.5:n.117G>T
ENST00000481249.5:n.473G>T
ENST00000485738.5:n.573G>T
ENST00000487478.5:n.20G>T
NM_001039375.2:c.512G>T	NP_001034464.1:p.Cys171Phe
NM_024120.4:c.596G>T	NP_077025.2:p.Cys199Phe
NR_029377.1:n.639G>T
XM_006723620.2:c.596G>T	XP_006723683.1:p.Cys199Phe
XM_006723622.2:c.125G>T	XP_006723685.1:p.Cys42Phe
XM_006723623.1:c.125G>T	XP_006723686.1:p.Cys42Phe
XM_006723624.1:c.125G>T	XP_006723687.1:p.Cys42Phe
XM_011529341.1:c.596G>T	XP_011527643.1:p.Cys199Phe
XM_011529342.1:c.596G>T	XP_011527644.1:p.Cys199Phe
XM_011529343.1:c.596G>T	XP_011527645.1:p.Cys199Phe
XM_011529344.1:c.227G>T	XP_011527646.1:p.Cys76Phe
XR_430269.2:n.616G>T
XR_937140.1:n.616G>T
NM_001352403.1:c.125G>T	NP_001339332.1:p.Cys42Phe
NM_001352406.1:c.35G>T	NP_001339335.1:p.Cys12Phe
NM_001352407.1:c.35G>T	NP_001339336.1:p.Cys12Phe
NM_001352408.1:c.596G>T	NP_001339337.1:p.Cys199Phe
NR_147978.1:n.639G>T
NR_147979.1:n.659G>T
NR_147980.1:n.535G>T
NR_147981.1:n.773G>T
NR_147982.1:n.773G>T
NR_147983.1:n.689G>T
XM_006723624.2:c.125G>T	XP_006723687.1:p.Cys42Phe
XM_011529342.2:c.596G>T	XP_011527644.1:p.Cys199Phe
XM_024451999.1:c.125G>T	XP_024307767.1:p.Cys42Phe
XR_001754396.1:n.555G>T
XR_430269.3:n.616G>T
XR_937140.2:n.616G>T
NM_024120.5:c.596G>T MANE Select	NP_077025.2:p.Cys199Phe
NM_001039375.3:c.512G>T	NP_001034464.1:p.Cys171Phe
NM_001352403.2:c.125G>T	NP_001339332.1:p.Cys42Phe
NM_001352406.2:c.35G>T	NP_001339335.1:p.Cys12Phe
NM_001352407.2:c.35G>T	NP_001339336.1:p.Cys12Phe
NR_029377.2:n.637G>T
NR_147978.2:n.637G>T
NR_147979.2:n.657G>T
NR_147980.2:n.533G>T
NR_147981.2:n.771G>T
NR_147982.2:n.771G>T
NR_147983.2:n.687G>T
NM_001352408.2:c.596G>T	NP_001339337.1:p.Cys199Phe