Canonical Allele Identifier: CA359719155

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954402G>A (hg19) ; chr5:g.53658572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658572G>A , CM000667.2:g.53658572G>A	GRCh38
NC_000005.9:g.52954402G>A , CM000667.1:g.52954402G>A	GRCh37
NC_000005.8:g.52990159G>A	NCBI36
NG_008200.1:g.102938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.372G>A MANE Select	ENSP00000296684.5:p.Met124Ile
ENST00000296684.9:c.372G>A	ENSP00000296684.5:p.Met124Ile
ENST00000502423.5:c.*239G>A	ENSP00000422177.1:n.*239G>A
ENST00000506765.1:c.338+12167G>A	ENSP00000424570.1:n.338+12167G>A
ENST00000506974.5:c.*148G>A	ENSP00000425967.1:n.*148G>A
ENST00000507026.5:c.*346G>A	ENSP00000424993.1:n.*346G>A
ENST00000509443.1:n.233G>A
NM_002495.2:c.372G>A	NP_002486.1:p.Met124Ile
XM_005248525.3:c.350+12167G>A	XP_005248582.1:n.350+12167G>A
XM_011543415.1:c.198G>A	XP_011541717.1:p.Met66Ile
NM_001318051.1:c.350+12167G>A	NP_001304980.1:n.350+12167G>A
NM_002495.3:c.372G>A	NP_002486.1:p.Met124Ile
NR_134473.1:n.574G>A
NR_134474.1:n.491G>A
NR_134475.1:n.526G>A
NM_002495.4:c.372G>A MANE Select	NP_002486.1:p.Met124Ile
NM_001318051.2:c.350+12167G>A	NP_001304980.1:n.350+12167G>A
NR_134473.2:n.568G>A
NR_134474.2:n.485G>A
NR_134475.2:n.520G>A