Canonical Allele Identifier: CA359719597

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942094A>G (hg19) ; chr5:g.53646264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646264A>G , CM000667.2:g.53646264A>G	GRCh38
NC_000005.9:g.52942094A>G , CM000667.1:g.52942094A>G	GRCh37
NC_000005.8:g.52977851A>G	NCBI36
NG_008200.1:g.90630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.209A>G MANE Select	ENSP00000296684.5:p.Glu70Gly
ENST00000296684.9:c.209A>G	ENSP00000296684.5:p.Glu70Gly
ENST00000502423.5:c.*76A>G	ENSP00000422177.1:n.*76A>G
ENST00000506765.1:c.197A>G	ENSP00000424570.1:p.Glu66Gly
ENST00000506974.5:c.381A>G	ENSP00000425967.1:p.Arg127=
ENST00000507026.5:c.*183A>G	ENSP00000424993.1:n.*183A>G
ENST00000509443.1:n.70A>G
NM_002495.2:c.209A>G	NP_002486.1:p.Glu70Gly
XM_005248525.3:c.209A>G	XP_005248582.1:p.Glu70Gly
XM_011543415.1:c.35A>G	XP_011541717.1:p.Glu12Gly
NM_001318051.1:c.209A>G	NP_001304980.1:p.Glu70Gly
NM_002495.3:c.209A>G	NP_002486.1:p.Glu70Gly
NR_134473.1:n.411A>G
NR_134474.1:n.328A>G
NR_134475.1:n.363A>G
NM_002495.4:c.209A>G MANE Select	NP_002486.1:p.Glu70Gly
NM_001318051.2:c.209A>G	NP_001304980.1:p.Glu70Gly
NR_134473.2:n.405A>G
NR_134474.2:n.322A>G
NR_134475.2:n.357A>G