Canonical Allele Identifier: CA1546666271

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658554T= , CM000667.2:g.53658554T=	GRCh38
NC_000005.9:g.52954384T= , CM000667.1:g.52954384T=	GRCh37
NC_000005.8:g.52990141T=	NCBI36
NG_008200.1:g.102920T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.354T= MANE Select	ENSP00000296684.5:p.Ala118=
ENST00000296684.9:c.354T=	ENSP00000296684.5:p.Ala118=
ENST00000502423.5:c.*221T=	ENSP00000422177.1:n.*221T=
ENST00000506765.1:c.338+12149T=	ENSP00000424570.1:n.338+12149T=
ENST00000506974.5:c.*130T=	ENSP00000425967.1:n.*130T=
ENST00000507026.5:c.*328T=	ENSP00000424993.1:n.*328T=
ENST00000509443.1:n.215T=
NM_002495.2:c.354T=	NP_002486.1:p.Ala118=
XM_005248525.3:c.350+12149T=	XP_005248582.1:n.350+12149T=
XM_011543415.1:c.180T=	XP_011541717.1:p.Ala60=
NM_001318051.1:c.350+12149T=	NP_001304980.1:n.350+12149T=
NM_002495.3:c.354T=	NP_002486.1:p.Ala118=
NR_134473.1:n.556T=
NR_134474.1:n.473T=
NR_134475.1:n.508T=
NM_002495.4:c.354T= MANE Select	NP_002486.1:p.Ala118=
NM_001318051.2:c.350+12149T=	NP_001304980.1:n.350+12149T=
NR_134473.2:n.550T=
NR_134474.2:n.467T=
NR_134475.2:n.502T=