Canonical Allele Identifier: CA359719184

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954415A>T (hg19) ; chr5:g.53658585A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658585A>T , CM000667.2:g.53658585A>T	GRCh38
NC_000005.9:g.52954415A>T , CM000667.1:g.52954415A>T	GRCh37
NC_000005.8:g.52990172A>T	NCBI36
NG_008200.1:g.102951A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.385A>T MANE Select	ENSP00000296684.5:p.Ser129Cys
ENST00000296684.9:c.385A>T	ENSP00000296684.5:p.Ser129Cys
ENST00000502423.5:c.*252A>T	ENSP00000422177.1:n.*252A>T
ENST00000506765.1:c.338+12180A>T	ENSP00000424570.1:n.338+12180A>T
ENST00000506974.5:c.*161A>T	ENSP00000425967.1:n.*161A>T
ENST00000507026.5:c.*359A>T	ENSP00000424993.1:n.*359A>T
ENST00000509443.1:n.246A>T
NM_002495.2:c.385A>T	NP_002486.1:p.Ser129Cys
XM_005248525.3:c.350+12180A>T	XP_005248582.1:n.350+12180A>T
XM_011543415.1:c.211A>T	XP_011541717.1:p.Ser71Cys
NM_001318051.1:c.350+12180A>T	NP_001304980.1:n.350+12180A>T
NM_002495.3:c.385A>T	NP_002486.1:p.Ser129Cys
NR_134473.1:n.587A>T
NR_134474.1:n.504A>T
NR_134475.1:n.539A>T
NM_002495.4:c.385A>T MANE Select	NP_002486.1:p.Ser129Cys
NM_001318051.2:c.350+12180A>T	NP_001304980.1:n.350+12180A>T
NR_134473.2:n.581A>T
NR_134474.2:n.498A>T
NR_134475.2:n.533A>T