Canonical Allele Identifier: CA359719575

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942082G>C (hg19) ; chr5:g.53646252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646252G>C , CM000667.2:g.53646252G>C	GRCh38
NC_000005.9:g.52942082G>C , CM000667.1:g.52942082G>C	GRCh37
NC_000005.8:g.52977839G>C	NCBI36
NG_008200.1:g.90618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.197G>C MANE Select	ENSP00000296684.5:p.Gly66Ala
ENST00000296684.9:c.197G>C	ENSP00000296684.5:p.Gly66Ala
ENST00000502423.5:c.*64G>C	ENSP00000422177.1:n.*64G>C
ENST00000506765.1:c.185G>C	ENSP00000424570.1:p.Gly62Ala
ENST00000506974.5:c.369G>C	ENSP00000425967.1:p.Trp123Cys
ENST00000507026.5:c.*171G>C	ENSP00000424993.1:n.*171G>C
ENST00000509443.1:n.58G>C
NM_002495.2:c.197G>C	NP_002486.1:p.Gly66Ala
XM_005248525.3:c.197G>C	XP_005248582.1:p.Gly66Ala
XM_011543415.1:c.23G>C	XP_011541717.1:p.Gly8Ala
NM_001318051.1:c.197G>C	NP_001304980.1:p.Gly66Ala
NM_002495.3:c.197G>C	NP_002486.1:p.Gly66Ala
NR_134473.1:n.399G>C
NR_134474.1:n.316G>C
NR_134475.1:n.351G>C
NM_002495.4:c.197G>C MANE Select	NP_002486.1:p.Gly66Ala
NM_001318051.2:c.197G>C	NP_001304980.1:p.Gly66Ala
NR_134473.2:n.393G>C
NR_134474.2:n.310G>C
NR_134475.2:n.345G>C