Canonical Allele Identifier: CA359719685

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942133C>A (hg19) ; chr5:g.53646303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646303C>A , CM000667.2:g.53646303C>A	GRCh38
NC_000005.9:g.52942133C>A , CM000667.1:g.52942133C>A	GRCh37
NC_000005.8:g.52977890C>A	NCBI36
NG_008200.1:g.90669C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.248C>A MANE Select	ENSP00000296684.5:p.Ala83Asp
ENST00000296684.9:c.248C>A	ENSP00000296684.5:p.Ala83Asp
ENST00000502423.5:c.*115C>A	ENSP00000422177.1:n.*115C>A
ENST00000506765.1:c.236C>A	ENSP00000424570.1:p.Ala79Asp
ENST00000506974.5:c.*24C>A	ENSP00000425967.1:n.*24C>A
ENST00000507026.5:c.*222C>A	ENSP00000424993.1:n.*222C>A
ENST00000509443.1:n.109C>A
NM_002495.2:c.248C>A	NP_002486.1:p.Ala83Asp
XM_005248525.3:c.248C>A	XP_005248582.1:p.Ala83Asp
XM_011543415.1:c.74C>A	XP_011541717.1:p.Ala25Asp
NM_001318051.1:c.248C>A	NP_001304980.1:p.Ala83Asp
NM_002495.3:c.248C>A	NP_002486.1:p.Ala83Asp
NR_134473.1:n.450C>A
NR_134474.1:n.367C>A
NR_134475.1:n.402C>A
NM_002495.4:c.248C>A MANE Select	NP_002486.1:p.Ala83Asp
NM_001318051.2:c.248C>A	NP_001304980.1:p.Ala83Asp
NR_134473.2:n.444C>A
NR_134474.2:n.361C>A
NR_134475.2:n.396C>A