Canonical Allele Identifier: CA359719564

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942077A>T (hg19) ; chr5:g.53646247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646247A>T , CM000667.2:g.53646247A>T	GRCh38
NC_000005.9:g.52942077A>T , CM000667.1:g.52942077A>T	GRCh37
NC_000005.8:g.52977834A>T	NCBI36
NG_008200.1:g.90613A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.192A>T MANE Select	ENSP00000296684.5:p.Leu64Phe
ENST00000296684.9:c.192A>T	ENSP00000296684.5:p.Leu64Phe
ENST00000502423.5:c.*59A>T	ENSP00000422177.1:n.*59A>T
ENST00000506765.1:c.180A>T	ENSP00000424570.1:p.Leu60Phe
ENST00000506974.5:c.364A>T	ENSP00000425967.1:p.Asn122Tyr
ENST00000507026.5:c.*166A>T	ENSP00000424993.1:n.*166A>T
ENST00000509443.1:n.53A>T
NM_002495.2:c.192A>T	NP_002486.1:p.Leu64Phe
XM_005248525.3:c.192A>T	XP_005248582.1:p.Leu64Phe
XM_011543415.1:c.18A>T	XP_011541717.1:p.Leu6Phe
NM_001318051.1:c.192A>T	NP_001304980.1:p.Leu64Phe
NM_002495.3:c.192A>T	NP_002486.1:p.Leu64Phe
NR_134473.1:n.394A>T
NR_134474.1:n.311A>T
NR_134475.1:n.346A>T
NM_002495.4:c.192A>T MANE Select	NP_002486.1:p.Leu64Phe
NM_001318051.2:c.192A>T	NP_001304980.1:p.Leu64Phe
NR_134473.2:n.388A>T
NR_134474.2:n.305A>T
NR_134475.2:n.340A>T