Canonical Allele Identifier: CA359719860

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942210A>T (hg19) ; chr5:g.53646380A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646380A>T , CM000667.2:g.53646380A>T	GRCh38
NC_000005.9:g.52942210A>T , CM000667.1:g.52942210A>T	GRCh37
NC_000005.8:g.52977967A>T	NCBI36
NG_008200.1:g.90746A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.325A>T MANE Select	ENSP00000296684.5:p.Asn109Tyr
ENST00000296684.9:c.325A>T	ENSP00000296684.5:p.Asn109Tyr
ENST00000502423.5:c.*192A>T	ENSP00000422177.1:n.*192A>T
ENST00000506765.1:c.313A>T	ENSP00000424570.1:p.Asn105Tyr
ENST00000506974.5:c.*101A>T	ENSP00000425967.1:n.*101A>T
ENST00000507026.5:c.*299A>T	ENSP00000424993.1:n.*299A>T
ENST00000509443.1:n.186A>T
NM_002495.2:c.325A>T	NP_002486.1:p.Asn109Tyr
XM_005248525.3:c.325A>T	XP_005248582.1:p.Asn109Tyr
XM_011543415.1:c.151A>T	XP_011541717.1:p.Asn51Tyr
NM_001318051.1:c.325A>T	NP_001304980.1:p.Asn109Tyr
NM_002495.3:c.325A>T	NP_002486.1:p.Asn109Tyr
NR_134473.1:n.527A>T
NR_134474.1:n.444A>T
NR_134475.1:n.479A>T
NM_002495.4:c.325A>T MANE Select	NP_002486.1:p.Asn109Tyr
NM_001318051.2:c.325A>T	NP_001304980.1:p.Asn109Tyr
NR_134473.2:n.521A>T
NR_134474.2:n.438A>T
NR_134475.2:n.473A>T