Canonical Allele Identifier: CA359719219

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954431C>A (hg19) ; chr5:g.53658601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658601C>A , CM000667.2:g.53658601C>A	GRCh38
NC_000005.9:g.52954431C>A , CM000667.1:g.52954431C>A	GRCh37
NC_000005.8:g.52990188C>A	NCBI36
NG_008200.1:g.102967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.401C>A MANE Select	ENSP00000296684.5:p.Ala134Glu
ENST00000296684.9:c.401C>A	ENSP00000296684.5:p.Ala134Glu
ENST00000502423.5:c.*268C>A	ENSP00000422177.1:n.*268C>A
ENST00000506765.1:c.338+12196C>A	ENSP00000424570.1:n.338+12196C>A
ENST00000506974.5:c.*177C>A	ENSP00000425967.1:n.*177C>A
ENST00000507026.5:c.*375C>A	ENSP00000424993.1:n.*375C>A
ENST00000509443.1:n.262C>A
NM_002495.2:c.401C>A	NP_002486.1:p.Ala134Glu
XM_005248525.3:c.350+12196C>A	XP_005248582.1:n.350+12196C>A
XM_011543415.1:c.227C>A	XP_011541717.1:p.Ala76Glu
NM_001318051.1:c.350+12196C>A	NP_001304980.1:n.350+12196C>A
NM_002495.3:c.401C>A	NP_002486.1:p.Ala134Glu
NR_134473.1:n.603C>A
NR_134474.1:n.520C>A
NR_134475.1:n.555C>A
NM_002495.4:c.401C>A MANE Select	NP_002486.1:p.Ala134Glu
NM_001318051.2:c.350+12196C>A	NP_001304980.1:n.350+12196C>A
NR_134473.2:n.597C>A
NR_134474.2:n.514C>A
NR_134475.2:n.549C>A