Canonical Allele Identifier: CA359719586

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1751859730
• MyVariant Identifiers: chr5:g.52942090G>A (hg19) ; chr5:g.53646260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646260G>A , CM000667.2:g.53646260G>A	GRCh38
NC_000005.9:g.52942090G>A , CM000667.1:g.52942090G>A	GRCh37
NC_000005.8:g.52977847G>A	NCBI36
NG_008200.1:g.90626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.205G>A MANE Select	ENSP00000296684.5:p.Glu69Lys
ENST00000296684.9:c.205G>A	ENSP00000296684.5:p.Glu69Lys
ENST00000502423.5:c.*72G>A	ENSP00000422177.1:n.*72G>A
ENST00000506765.1:c.193G>A	ENSP00000424570.1:p.Glu65Lys
ENST00000506974.5:c.377G>A	ENSP00000425967.1:p.Arg126Lys
ENST00000507026.5:c.*179G>A	ENSP00000424993.1:n.*179G>A
ENST00000509443.1:n.66G>A
NM_002495.2:c.205G>A	NP_002486.1:p.Glu69Lys
XM_005248525.3:c.205G>A	XP_005248582.1:p.Glu69Lys
XM_011543415.1:c.31G>A	XP_011541717.1:p.Glu11Lys
NM_001318051.1:c.205G>A	NP_001304980.1:p.Glu69Lys
NM_002495.3:c.205G>A	NP_002486.1:p.Glu69Lys
NR_134473.1:n.407G>A
NR_134474.1:n.324G>A
NR_134475.1:n.359G>A
NM_002495.4:c.205G>A MANE Select	NP_002486.1:p.Glu69Lys
NM_001318051.2:c.205G>A	NP_001304980.1:p.Glu69Lys
NR_134473.2:n.401G>A
NR_134474.2:n.318G>A
NR_134475.2:n.353G>A