Canonical Allele Identifier: CA359719598

Gene: NDUFS4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.209A>T MANE Select	ENSP00000296684.5:p.Glu70Val
ENST00000296684.9:c.209A>T	ENSP00000296684.5:p.Glu70Val
ENST00000502423.5:c.*76A>T	ENSP00000422177.1:n.*76A>T
ENST00000506765.1:c.197A>T	ENSP00000424570.1:p.Glu66Val
ENST00000506974.5:c.381A>T	ENSP00000425967.1:p.Arg127Ser
ENST00000507026.5:c.*183A>T	ENSP00000424993.1:n.*183A>T
ENST00000509443.1:n.70A>T
NM_002495.2:c.209A>T	NP_002486.1:p.Glu70Val
XM_005248525.3:c.209A>T	XP_005248582.1:p.Glu70Val
XM_011543415.1:c.35A>T	XP_011541717.1:p.Glu12Val
NM_001318051.1:c.209A>T	NP_001304980.1:p.Glu70Val
NM_002495.3:c.209A>T	NP_002486.1:p.Glu70Val
NR_134473.1:n.411A>T
NR_134474.1:n.328A>T
NR_134475.1:n.363A>T
NM_002495.4:c.209A>T MANE Select	NP_002486.1:p.Glu70Val
NM_001318051.2:c.209A>T	NP_001304980.1:p.Glu70Val
NR_134473.2:n.405A>T
NR_134474.2:n.322A>T
NR_134475.2:n.357A>T