Canonical Allele Identifier: CA444330317

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942077A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.192A>G MANE Select	ENSP00000296684.5:p.Leu64=
ENST00000296684.9:c.192A>G	ENSP00000296684.5:p.Leu64=
ENST00000502423.5:c.*59A>G	ENSP00000422177.1:n.*59A>G
ENST00000506765.1:c.180A>G	ENSP00000424570.1:p.Leu60=
ENST00000506974.5:c.364A>G	ENSP00000425967.1:p.Asn122Asp
ENST00000507026.5:c.*166A>G	ENSP00000424993.1:n.*166A>G
ENST00000509443.1:n.53A>G
NM_002495.2:c.192A>G	NP_002486.1:p.Leu64=
XM_005248525.3:c.192A>G	XP_005248582.1:p.Leu64=
XM_011543415.1:c.18A>G	XP_011541717.1:p.Leu6=
NM_001318051.1:c.192A>G	NP_001304980.1:p.Leu64=
NM_002495.3:c.192A>G	NP_002486.1:p.Leu64=
NR_134473.1:n.394A>G
NR_134474.1:n.311A>G
NR_134475.1:n.346A>G
NM_002495.4:c.192A>G MANE Select	NP_002486.1:p.Leu64=
NM_001318051.2:c.192A>G	NP_001304980.1:p.Leu64=
NR_134473.2:n.388A>G
NR_134474.2:n.305A>G
NR_134475.2:n.340A>G