Canonical Allele Identifier: CA359719213

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658598-A-T
• MyVariant Identifiers: chr5:g.52954428A>T (hg19) ; chr5:g.53658598A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658598A>T , CM000667.2:g.53658598A>T	GRCh38
NC_000005.9:g.52954428A>T , CM000667.1:g.52954428A>T	GRCh37
NC_000005.8:g.52990185A>T	NCBI36
NG_008200.1:g.102964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.398A>T MANE Select	ENSP00000296684.5:p.Asp133Val
ENST00000296684.9:c.398A>T	ENSP00000296684.5:p.Asp133Val
ENST00000502423.5:c.*265A>T	ENSP00000422177.1:n.*265A>T
ENST00000506765.1:c.338+12193A>T	ENSP00000424570.1:n.338+12193A>T
ENST00000506974.5:c.*174A>T	ENSP00000425967.1:n.*174A>T
ENST00000507026.5:c.*372A>T	ENSP00000424993.1:n.*372A>T
ENST00000509443.1:n.259A>T
NM_002495.2:c.398A>T	NP_002486.1:p.Asp133Val
XM_005248525.3:c.350+12193A>T	XP_005248582.1:n.350+12193A>T
XM_011543415.1:c.224A>T	XP_011541717.1:p.Asp75Val
NM_001318051.1:c.350+12193A>T	NP_001304980.1:n.350+12193A>T
NM_002495.3:c.398A>T	NP_002486.1:p.Asp133Val
NR_134473.1:n.600A>T
NR_134474.1:n.517A>T
NR_134475.1:n.552A>T
NM_002495.4:c.398A>T MANE Select	NP_002486.1:p.Asp133Val
NM_001318051.2:c.350+12193A>T	NP_001304980.1:n.350+12193A>T
NR_134473.2:n.594A>T
NR_134474.2:n.511A>T
NR_134475.2:n.546A>T