Canonical Allele Identifier: CA359719605

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942097A>T (hg19) ; chr5:g.53646267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646267A>T , CM000667.2:g.53646267A>T	GRCh38
NC_000005.9:g.52942097A>T , CM000667.1:g.52942097A>T	GRCh37
NC_000005.8:g.52977854A>T	NCBI36
NG_008200.1:g.90633A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.212A>T MANE Select	ENSP00000296684.5:p.His71Leu
ENST00000296684.9:c.212A>T	ENSP00000296684.5:p.His71Leu
ENST00000502423.5:c.*79A>T	ENSP00000422177.1:n.*79A>T
ENST00000506765.1:c.200A>T	ENSP00000424570.1:p.His67Leu
ENST00000506974.5:c.384A>T	ENSP00000425967.1:p.Ala128=
ENST00000507026.5:c.*186A>T	ENSP00000424993.1:n.*186A>T
ENST00000509443.1:n.73A>T
NM_002495.2:c.212A>T	NP_002486.1:p.His71Leu
XM_005248525.3:c.212A>T	XP_005248582.1:p.His71Leu
XM_011543415.1:c.38A>T	XP_011541717.1:p.His13Leu
NM_001318051.1:c.212A>T	NP_001304980.1:p.His71Leu
NM_002495.3:c.212A>T	NP_002486.1:p.His71Leu
NR_134473.1:n.414A>T
NR_134474.1:n.331A>T
NR_134475.1:n.366A>T
NM_002495.4:c.212A>T MANE Select	NP_002486.1:p.His71Leu
NM_001318051.2:c.212A>T	NP_001304980.1:p.His71Leu
NR_134473.2:n.408A>T
NR_134474.2:n.325A>T
NR_134475.2:n.360A>T