Canonical Allele Identifier: CA359719541

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942066A>T (hg19) ; chr5:g.53646236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646236A>T , CM000667.2:g.53646236A>T	GRCh38
NC_000005.9:g.52942066A>T , CM000667.1:g.52942066A>T	GRCh37
NC_000005.8:g.52977823A>T	NCBI36
NG_008200.1:g.90602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.181A>T MANE Select	ENSP00000296684.5:p.Ile61Phe
ENST00000296684.9:c.181A>T	ENSP00000296684.5:p.Ile61Phe
ENST00000502423.5:c.*48A>T	ENSP00000422177.1:n.*48A>T
ENST00000506765.1:c.169A>T	ENSP00000424570.1:p.Ile57Phe
ENST00000506974.5:c.353A>T	ENSP00000425967.1:p.Tyr118Phe
ENST00000507026.5:c.*155A>T	ENSP00000424993.1:n.*155A>T
ENST00000509443.1:n.42A>T
NM_002495.2:c.181A>T	NP_002486.1:p.Ile61Phe
XM_005248525.3:c.181A>T	XP_005248582.1:p.Ile61Phe
XM_011543415.1:c.7A>T	XP_011541717.1:p.Ile3Phe
NM_001318051.1:c.181A>T	NP_001304980.1:p.Ile61Phe
NM_002495.3:c.181A>T	NP_002486.1:p.Ile61Phe
NR_134473.1:n.383A>T
NR_134474.1:n.300A>T
NR_134475.1:n.335A>T
NM_002495.4:c.181A>T MANE Select	NP_002486.1:p.Ile61Phe
NM_001318051.2:c.181A>T	NP_001304980.1:p.Ile61Phe
NR_134473.2:n.377A>T
NR_134474.2:n.294A>T
NR_134475.2:n.329A>T