Canonical Allele Identifier: CA119095817

Gene: NDUFS4

Linked Data

• dbSNP Id: rs112970586
• MyVariant Identifiers: chr5:g.52856541A>G (hg19) ; chr5:g.53560711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560711A>G , CM000667.2:g.53560711A>G	GRCh38
NC_000005.9:g.52856541A>G , CM000667.1:g.52856541A>G	GRCh37
NC_000005.8:g.52892298A>G	NCBI36
NG_008200.1:g.5077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.49A>G MANE Select	ENSP00000296684.5:p.Arg17Gly
ENST00000296684.9:c.49A>G	ENSP00000296684.5:p.Arg17Gly
ENST00000502423.5:c.49A>G	ENSP00000422177.1:p.Arg17Gly
ENST00000506765.1:c.37A>G	ENSP00000424570.1:p.Arg13Gly
ENST00000506974.5:c.49A>G	ENSP00000425967.1:p.Arg17Gly
ENST00000507026.5:c.49A>G	ENSP00000424993.1:p.Arg17Gly
NM_002495.2:c.49A>G	NP_002486.1:p.Arg17Gly
XM_005248525.3:c.49A>G	XP_005248582.1:p.Arg17Gly
XM_011543414.1:c.49A>G	XP_011541716.1:p.Arg17Gly
NM_001318051.1:c.49A>G	NP_001304980.1:p.Arg17Gly
NM_002495.3:c.49A>G	NP_002486.1:p.Arg17Gly
NR_134473.1:n.79A>G
NR_134474.1:n.79A>G
NR_134475.1:n.79A>G
XM_017009491.1:c.49A>G	XP_016864980.1:p.Arg17Gly
NM_002495.4:c.49A>G MANE Select	NP_002486.1:p.Arg17Gly
NM_001318051.2:c.49A>G	NP_001304980.1:p.Arg17Gly
NR_134473.2:n.73A>G
NR_134474.2:n.73A>G
NR_134475.2:n.73A>G