Canonical Allele Identifier: CA359719700

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942142A>T (hg19) ; chr5:g.53646312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646312A>T , CM000667.2:g.53646312A>T	GRCh38
NC_000005.9:g.52942142A>T , CM000667.1:g.52942142A>T	GRCh37
NC_000005.8:g.52977899A>T	NCBI36
NG_008200.1:g.90678A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.257A>T MANE Select	ENSP00000296684.5:p.Asn86Ile
ENST00000296684.9:c.257A>T	ENSP00000296684.5:p.Asn86Ile
ENST00000502423.5:c.*124A>T	ENSP00000422177.1:n.*124A>T
ENST00000506765.1:c.245A>T	ENSP00000424570.1:p.Asn82Ile
ENST00000506974.5:c.*33A>T	ENSP00000425967.1:n.*33A>T
ENST00000507026.5:c.*231A>T	ENSP00000424993.1:n.*231A>T
ENST00000509443.1:n.118A>T
NM_002495.2:c.257A>T	NP_002486.1:p.Asn86Ile
XM_005248525.3:c.257A>T	XP_005248582.1:p.Asn86Ile
XM_011543415.1:c.83A>T	XP_011541717.1:p.Asn28Ile
NM_001318051.1:c.257A>T	NP_001304980.1:p.Asn86Ile
NM_002495.3:c.257A>T	NP_002486.1:p.Asn86Ile
NR_134473.1:n.459A>T
NR_134474.1:n.376A>T
NR_134475.1:n.411A>T
NM_002495.4:c.257A>T MANE Select	NP_002486.1:p.Asn86Ile
NM_001318051.2:c.257A>T	NP_001304980.1:p.Asn86Ile
NR_134473.2:n.453A>T
NR_134474.2:n.370A>T
NR_134475.2:n.405A>T