Canonical Allele Identifier: CA359719214

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658599-T-A
• MyVariant Identifiers: chr5:g.52954429T>A (hg19) ; chr5:g.53658599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658599T>A , CM000667.2:g.53658599T>A	GRCh38
NC_000005.9:g.52954429T>A , CM000667.1:g.52954429T>A	GRCh37
NC_000005.8:g.52990186T>A	NCBI36
NG_008200.1:g.102965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.399T>A MANE Select	ENSP00000296684.5:p.Asp133Glu
ENST00000296684.9:c.399T>A	ENSP00000296684.5:p.Asp133Glu
ENST00000502423.5:c.*266T>A	ENSP00000422177.1:n.*266T>A
ENST00000506765.1:c.338+12194T>A	ENSP00000424570.1:n.338+12194T>A
ENST00000506974.5:c.*175T>A	ENSP00000425967.1:n.*175T>A
ENST00000507026.5:c.*373T>A	ENSP00000424993.1:n.*373T>A
ENST00000509443.1:n.260T>A
NM_002495.2:c.399T>A	NP_002486.1:p.Asp133Glu
XM_005248525.3:c.350+12194T>A	XP_005248582.1:n.350+12194T>A
XM_011543415.1:c.225T>A	XP_011541717.1:p.Asp75Glu
NM_001318051.1:c.350+12194T>A	NP_001304980.1:n.350+12194T>A
NM_002495.3:c.399T>A	NP_002486.1:p.Asp133Glu
NR_134473.1:n.601T>A
NR_134474.1:n.518T>A
NR_134475.1:n.553T>A
NM_002495.4:c.399T>A MANE Select	NP_002486.1:p.Asp133Glu
NM_001318051.2:c.350+12194T>A	NP_001304980.1:n.350+12194T>A
NR_134473.2:n.595T>A
NR_134474.2:n.512T>A
NR_134475.2:n.547T>A