Canonical Allele Identifier: CA359719676

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942129C>G (hg19) ; chr5:g.53646299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646299C>G , CM000667.2:g.53646299C>G	GRCh38
NC_000005.9:g.52942129C>G , CM000667.1:g.52942129C>G	GRCh37
NC_000005.8:g.52977886C>G	NCBI36
NG_008200.1:g.90665C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.244C>G MANE Select	ENSP00000296684.5:p.Pro82Ala
ENST00000296684.9:c.244C>G	ENSP00000296684.5:p.Pro82Ala
ENST00000502423.5:c.*111C>G	ENSP00000422177.1:n.*111C>G
ENST00000506765.1:c.232C>G	ENSP00000424570.1:p.Pro78Ala
ENST00000506974.5:c.*20C>G	ENSP00000425967.1:n.*20C>G
ENST00000507026.5:c.*218C>G	ENSP00000424993.1:n.*218C>G
ENST00000509443.1:n.105C>G
NM_002495.2:c.244C>G	NP_002486.1:p.Pro82Ala
XM_005248525.3:c.244C>G	XP_005248582.1:p.Pro82Ala
XM_011543415.1:c.70C>G	XP_011541717.1:p.Pro24Ala
NM_001318051.1:c.244C>G	NP_001304980.1:p.Pro82Ala
NM_002495.3:c.244C>G	NP_002486.1:p.Pro82Ala
NR_134473.1:n.446C>G
NR_134474.1:n.363C>G
NR_134475.1:n.398C>G
NM_002495.4:c.244C>G MANE Select	NP_002486.1:p.Pro82Ala
NM_001318051.2:c.244C>G	NP_001304980.1:p.Pro82Ala
NR_134473.2:n.440C>G
NR_134474.2:n.357C>G
NR_134475.2:n.392C>G