Canonical Allele Identifier: CA2842485084

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646453G>A , CM000667.2:g.53646453G>A	GRCh38
NC_000005.9:g.52942283G>A , CM000667.1:g.52942283G>A	GRCh37
NC_000005.8:g.52978040G>A	NCBI36
NG_008200.1:g.90819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.350+48G>A MANE Select	ENSP00000296684.5:n.350+48G>A
ENST00000296684.9:c.350+48G>A	ENSP00000296684.5:n.350+48G>A
ENST00000502423.5:c.*217+48G>A	ENSP00000422177.1:n.*217+48G>A
ENST00000506765.1:c.338+48G>A	ENSP00000424570.1:n.338+48G>A
ENST00000506974.5:c.*126+48G>A	ENSP00000425967.1:n.*126+48G>A
ENST00000507026.5:c.*324+48G>A	ENSP00000424993.1:n.*324+48G>A
ENST00000509443.1:n.211+48G>A
NM_002495.2:c.350+48G>A	NP_002486.1:n.350+48G>A
XM_005248525.3:c.350+48G>A	XP_005248582.1:n.350+48G>A
XM_011543415.1:c.176+48G>A	XP_011541717.1:n.176+48G>A
NM_001318051.1:c.350+48G>A	NP_001304980.1:n.350+48G>A
NM_002495.3:c.350+48G>A	NP_002486.1:n.350+48G>A
NR_134473.1:n.552+48G>A
NR_134474.1:n.469+48G>A
NR_134475.1:n.504+48G>A
NM_002495.4:c.350+48G>A MANE Select	NP_002486.1:n.350+48G>A
NM_001318051.2:c.350+48G>A	NP_001304980.1:n.350+48G>A
NR_134473.2:n.546+48G>A
NR_134474.2:n.463+48G>A
NR_134475.2:n.498+48G>A