Canonical Allele Identifier: CA359719802

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942185G>T (hg19) ; chr5:g.53646355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646355G>T , CM000667.2:g.53646355G>T	GRCh38
NC_000005.9:g.52942185G>T , CM000667.1:g.52942185G>T	GRCh37
NC_000005.8:g.52977942G>T	NCBI36
NG_008200.1:g.90721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.300G>T MANE Select	ENSP00000296684.5:p.Glu100Asp
ENST00000296684.9:c.300G>T	ENSP00000296684.5:p.Glu100Asp
ENST00000502423.5:c.*167G>T	ENSP00000422177.1:n.*167G>T
ENST00000506765.1:c.288G>T	ENSP00000424570.1:p.Glu96Asp
ENST00000506974.5:c.*76G>T	ENSP00000425967.1:n.*76G>T
ENST00000507026.5:c.*274G>T	ENSP00000424993.1:n.*274G>T
ENST00000509443.1:n.161G>T
NM_002495.2:c.300G>T	NP_002486.1:p.Glu100Asp
XM_005248525.3:c.300G>T	XP_005248582.1:p.Glu100Asp
XM_011543415.1:c.126G>T	XP_011541717.1:p.Glu42Asp
NM_001318051.1:c.300G>T	NP_001304980.1:p.Glu100Asp
NM_002495.3:c.300G>T	NP_002486.1:p.Glu100Asp
NR_134473.1:n.502G>T
NR_134474.1:n.419G>T
NR_134475.1:n.454G>T
NM_002495.4:c.300G>T MANE Select	NP_002486.1:p.Glu100Asp
NM_001318051.2:c.300G>T	NP_001304980.1:p.Glu100Asp
NR_134473.2:n.496G>T
NR_134474.2:n.413G>T
NR_134475.2:n.448G>T