Canonical Allele Identifier: CA359719765

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942171A>G (hg19) ; chr5:g.53646341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646341A>G , CM000667.2:g.53646341A>G	GRCh38
NC_000005.9:g.52942171A>G , CM000667.1:g.52942171A>G	GRCh37
NC_000005.8:g.52977928A>G	NCBI36
NG_008200.1:g.90707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.286A>G MANE Select	ENSP00000296684.5:p.Lys96Glu
ENST00000296684.9:c.286A>G	ENSP00000296684.5:p.Lys96Glu
ENST00000502423.5:c.*153A>G	ENSP00000422177.1:n.*153A>G
ENST00000506765.1:c.274A>G	ENSP00000424570.1:p.Lys92Glu
ENST00000506974.5:c.*62A>G	ENSP00000425967.1:n.*62A>G
ENST00000507026.5:c.*260A>G	ENSP00000424993.1:n.*260A>G
ENST00000509443.1:n.147A>G
NM_002495.2:c.286A>G	NP_002486.1:p.Lys96Glu
XM_005248525.3:c.286A>G	XP_005248582.1:p.Lys96Glu
XM_011543415.1:c.112A>G	XP_011541717.1:p.Lys38Glu
NM_001318051.1:c.286A>G	NP_001304980.1:p.Lys96Glu
NM_002495.3:c.286A>G	NP_002486.1:p.Lys96Glu
NR_134473.1:n.488A>G
NR_134474.1:n.405A>G
NR_134475.1:n.440A>G
NM_002495.4:c.286A>G MANE Select	NP_002486.1:p.Lys96Glu
NM_001318051.2:c.286A>G	NP_001304980.1:p.Lys96Glu
NR_134473.2:n.482A>G
NR_134474.2:n.399A>G
NR_134475.2:n.434A>G