Canonical Allele Identifier: CA1546660817

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646246T= , CM000667.2:g.53646246T=	GRCh38
NC_000005.9:g.52942076T= , CM000667.1:g.52942076T=	GRCh37
NC_000005.8:g.52977833T=	NCBI36
NG_008200.1:g.90612T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.191T= MANE Select	ENSP00000296684.5:p.Leu64=
ENST00000296684.9:c.191T=	ENSP00000296684.5:p.Leu64=
ENST00000502423.5:c.*58T=	ENSP00000422177.1:n.*58T=
ENST00000506765.1:c.179T=	ENSP00000424570.1:p.Leu60=
ENST00000506974.5:c.363T=	ENSP00000425967.1:p.Phe121=
ENST00000507026.5:c.*165T=	ENSP00000424993.1:n.*165T=
ENST00000509443.1:n.52T=
NM_002495.2:c.191T=	NP_002486.1:p.Leu64=
XM_005248525.3:c.191T=	XP_005248582.1:p.Leu64=
XM_011543415.1:c.17T=	XP_011541717.1:p.Leu6=
NM_001318051.1:c.191T=	NP_001304980.1:p.Leu64=
NM_002495.3:c.191T=	NP_002486.1:p.Leu64=
NR_134473.1:n.393T=
NR_134474.1:n.310T=
NR_134475.1:n.345T=
NM_002495.4:c.191T= MANE Select	NP_002486.1:p.Leu64=
NM_001318051.2:c.191T=	NP_001304980.1:p.Leu64=
NR_134473.2:n.387T=
NR_134474.2:n.304T=
NR_134475.2:n.339T=