Canonical Allele Identifier: CA359719844

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942204T>A (hg19) ; chr5:g.53646374T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646374T>A , CM000667.2:g.53646374T>A	GRCh38
NC_000005.9:g.52942204T>A , CM000667.1:g.52942204T>A	GRCh37
NC_000005.8:g.52977961T>A	NCBI36
NG_008200.1:g.90740T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.319T>A MANE Select	ENSP00000296684.5:p.Trp107Arg
ENST00000296684.9:c.319T>A	ENSP00000296684.5:p.Trp107Arg
ENST00000502423.5:c.*186T>A	ENSP00000422177.1:n.*186T>A
ENST00000506765.1:c.307T>A	ENSP00000424570.1:p.Trp103Arg
ENST00000506974.5:c.*95T>A	ENSP00000425967.1:n.*95T>A
ENST00000507026.5:c.*293T>A	ENSP00000424993.1:n.*293T>A
ENST00000509443.1:n.180T>A
NM_002495.2:c.319T>A	NP_002486.1:p.Trp107Arg
XM_005248525.3:c.319T>A	XP_005248582.1:p.Trp107Arg
XM_011543415.1:c.145T>A	XP_011541717.1:p.Trp49Arg
NM_001318051.1:c.319T>A	NP_001304980.1:p.Trp107Arg
NM_002495.3:c.319T>A	NP_002486.1:p.Trp107Arg
NR_134473.1:n.521T>A
NR_134474.1:n.438T>A
NR_134475.1:n.473T>A
NM_002495.4:c.319T>A MANE Select	NP_002486.1:p.Trp107Arg
NM_001318051.2:c.319T>A	NP_001304980.1:p.Trp107Arg
NR_134473.2:n.515T>A
NR_134474.2:n.432T>A
NR_134475.2:n.467T>A