Canonical Allele Identifier: CA119136916

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1032616801
• gnomAD v2: 5-52954416-G-A
• gnomAD v3: 5-53658586-G-A
• gnomAD v4: 5-53658586-G-A
• MyVariant Identifiers: chr5:g.52954416G>A (hg19) ; chr5:g.53658586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658586G>A , CM000667.2:g.53658586G>A	GRCh38
NC_000005.9:g.52954416G>A , CM000667.1:g.52954416G>A	GRCh37
NC_000005.8:g.52990173G>A	NCBI36
NG_008200.1:g.102952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.386G>A MANE Select	ENSP00000296684.5:p.Ser129Asn
ENST00000296684.9:c.386G>A	ENSP00000296684.5:p.Ser129Asn
ENST00000502423.5:c.*253G>A	ENSP00000422177.1:n.*253G>A
ENST00000506765.1:c.338+12181G>A	ENSP00000424570.1:n.338+12181G>A
ENST00000506974.5:c.*162G>A	ENSP00000425967.1:n.*162G>A
ENST00000507026.5:c.*360G>A	ENSP00000424993.1:n.*360G>A
ENST00000509443.1:n.247G>A
NM_002495.2:c.386G>A	NP_002486.1:p.Ser129Asn
XM_005248525.3:c.350+12181G>A	XP_005248582.1:n.350+12181G>A
XM_011543415.1:c.212G>A	XP_011541717.1:p.Ser71Asn
NM_001318051.1:c.350+12181G>A	NP_001304980.1:n.350+12181G>A
NM_002495.3:c.386G>A	NP_002486.1:p.Ser129Asn
NR_134473.1:n.588G>A
NR_134474.1:n.505G>A
NR_134475.1:n.540G>A
NM_002495.4:c.386G>A MANE Select	NP_002486.1:p.Ser129Asn
NM_001318051.2:c.350+12181G>A	NP_001304980.1:n.350+12181G>A
NR_134473.2:n.582G>A
NR_134474.2:n.499G>A
NR_134475.2:n.534G>A