Canonical Allele Identifier: CA359719705

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942144A>T (hg19) ; chr5:g.53646314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646314A>T , CM000667.2:g.53646314A>T	GRCh38
NC_000005.9:g.52942144A>T , CM000667.1:g.52942144A>T	GRCh37
NC_000005.8:g.52977901A>T	NCBI36
NG_008200.1:g.90680A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.259A>T MANE Select	ENSP00000296684.5:p.Met87Leu
ENST00000296684.9:c.259A>T	ENSP00000296684.5:p.Met87Leu
ENST00000502423.5:c.*126A>T	ENSP00000422177.1:n.*126A>T
ENST00000506765.1:c.247A>T	ENSP00000424570.1:p.Met83Leu
ENST00000506974.5:c.*35A>T	ENSP00000425967.1:n.*35A>T
ENST00000507026.5:c.*233A>T	ENSP00000424993.1:n.*233A>T
ENST00000509443.1:n.120A>T
NM_002495.2:c.259A>T	NP_002486.1:p.Met87Leu
XM_005248525.3:c.259A>T	XP_005248582.1:p.Met87Leu
XM_011543415.1:c.85A>T	XP_011541717.1:p.Met29Leu
NM_001318051.1:c.259A>T	NP_001304980.1:p.Met87Leu
NM_002495.3:c.259A>T	NP_002486.1:p.Met87Leu
NR_134473.1:n.461A>T
NR_134474.1:n.378A>T
NR_134475.1:n.413A>T
NM_002495.4:c.259A>T MANE Select	NP_002486.1:p.Met87Leu
NM_001318051.2:c.259A>T	NP_001304980.1:p.Met87Leu
NR_134473.2:n.455A>T
NR_134474.2:n.372A>T
NR_134475.2:n.407A>T