Canonical Allele Identifier: CA359719538

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942065T>A (hg19) ; chr5:g.53646235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646235T>A , CM000667.2:g.53646235T>A	GRCh38
NC_000005.9:g.52942065T>A , CM000667.1:g.52942065T>A	GRCh37
NC_000005.8:g.52977822T>A	NCBI36
NG_008200.1:g.90601T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.180T>A MANE Select	ENSP00000296684.5:p.Asp60Glu
ENST00000296684.9:c.180T>A	ENSP00000296684.5:p.Asp60Glu
ENST00000502423.5:c.*47T>A	ENSP00000422177.1:n.*47T>A
ENST00000506765.1:c.168T>A	ENSP00000424570.1:p.Asp56Glu
ENST00000506974.5:c.352T>A	ENSP00000425967.1:p.Tyr118Asn
ENST00000507026.5:c.*154T>A	ENSP00000424993.1:n.*154T>A
ENST00000509443.1:n.41T>A
NM_002495.2:c.180T>A	NP_002486.1:p.Asp60Glu
XM_005248525.3:c.180T>A	XP_005248582.1:p.Asp60Glu
XM_011543415.1:c.6T>A	XP_011541717.1:p.Asp2Glu
NM_001318051.1:c.180T>A	NP_001304980.1:p.Asp60Glu
NM_002495.3:c.180T>A	NP_002486.1:p.Asp60Glu
NR_134473.1:n.382T>A
NR_134474.1:n.299T>A
NR_134475.1:n.334T>A
NM_002495.4:c.180T>A MANE Select	NP_002486.1:p.Asp60Glu
NM_001318051.2:c.180T>A	NP_001304980.1:p.Asp60Glu
NR_134473.2:n.376T>A
NR_134474.2:n.293T>A
NR_134475.2:n.328T>A