Canonical Allele Identifier: CA1546666283

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658576C= , CM000667.2:g.53658576C=	GRCh38
NC_000005.9:g.52954406C= , CM000667.1:g.52954406C=	GRCh37
NC_000005.8:g.52990163C=	NCBI36
NG_008200.1:g.102942C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.376C= MANE Select	ENSP00000296684.5:p.Leu126=
ENST00000296684.9:c.376C=	ENSP00000296684.5:p.Leu126=
ENST00000502423.5:c.*243C=	ENSP00000422177.1:n.*243C=
ENST00000506765.1:c.338+12171C=	ENSP00000424570.1:n.338+12171C=
ENST00000506974.5:c.*152C=	ENSP00000425967.1:n.*152C=
ENST00000507026.5:c.*350C=	ENSP00000424993.1:n.*350C=
ENST00000509443.1:n.237C=
NM_002495.2:c.376C=	NP_002486.1:p.Leu126=
XM_005248525.3:c.350+12171C=	XP_005248582.1:n.350+12171C=
XM_011543415.1:c.202C=	XP_011541717.1:p.Leu68=
NM_001318051.1:c.350+12171C=	NP_001304980.1:n.350+12171C=
NM_002495.3:c.376C=	NP_002486.1:p.Leu126=
NR_134473.1:n.578C=
NR_134474.1:n.495C=
NR_134475.1:n.530C=
NM_002495.4:c.376C= MANE Select	NP_002486.1:p.Leu126=
NM_001318051.2:c.350+12171C=	NP_001304980.1:n.350+12171C=
NR_134473.2:n.572C=
NR_134474.2:n.489C=
NR_134475.2:n.524C=