Canonical Allele Identifier: CA359719739
Gene: NDUFS4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646330A>C , CM000667.2:g.53646330A>C GRCh38
NC_000005.9:g.52942160A>C , CM000667.1:g.52942160A>C GRCh37
NC_000005.8:g.52977917A>C NCBI36
NG_008200.1:g.90696A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.275A>C MANE Select ENSP00000296684.5:p.Asn92Thr
ENST00000296684.9:c.275A>C ENSP00000296684.5:p.Asn92Thr
ENST00000502423.5:c.*142A>C ENSP00000422177.1:n.*142A>C
ENST00000506765.1:c.263A>C ENSP00000424570.1:p.Asn88Thr
ENST00000506974.5:c.*51A>C ENSP00000425967.1:n.*51A>C
ENST00000507026.5:c.*249A>C ENSP00000424993.1:n.*249A>C
ENST00000509443.1:n.136A>C
NM_002495.2:c.275A>C NP_002486.1:p.Asn92Thr
XM_005248525.3:c.275A>C XP_005248582.1:p.Asn92Thr
XM_011543415.1:c.101A>C XP_011541717.1:p.Asn34Thr
NM_001318051.1:c.275A>C NP_001304980.1:p.Asn92Thr
NM_002495.3:c.275A>C NP_002486.1:p.Asn92Thr
NR_134473.1:n.477A>C
NR_134474.1:n.394A>C
NR_134475.1:n.429A>C
NM_002495.4:c.275A>C MANE Select NP_002486.1:p.Asn92Thr
NM_001318051.2:c.275A>C NP_001304980.1:p.Asn92Thr
NR_134473.2:n.471A>C
NR_134474.2:n.388A>C
NR_134475.2:n.423A>C