Canonical Allele Identifier: CA359719534

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1255777831
• gnomAD v3: 5-53646233-G-T
• gnomAD v4: 5-53646233-G-T
• MyVariant Identifiers: chr5:g.52942063G>T (hg19) ; chr5:g.53646233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646233G>T , CM000667.2:g.53646233G>T	GRCh38
NC_000005.9:g.52942063G>T , CM000667.1:g.52942063G>T	GRCh37
NC_000005.8:g.52977820G>T	NCBI36
NG_008200.1:g.90599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178G>T MANE Select	ENSP00000296684.5:p.Asp60Tyr
ENST00000296684.9:c.178G>T	ENSP00000296684.5:p.Asp60Tyr
ENST00000502423.5:c.*45G>T	ENSP00000422177.1:n.*45G>T
ENST00000506765.1:c.166G>T	ENSP00000424570.1:p.Asp56Tyr
ENST00000506974.5:c.350G>T	ENSP00000425967.1:p.Gly117Val
ENST00000507026.5:c.*152G>T	ENSP00000424993.1:n.*152G>T
ENST00000509443.1:n.39G>T
NM_002495.2:c.178G>T	NP_002486.1:p.Asp60Tyr
XM_005248525.3:c.178G>T	XP_005248582.1:p.Asp60Tyr
XM_011543415.1:c.4G>T	XP_011541717.1:p.Asp2Tyr
NM_001318051.1:c.178G>T	NP_001304980.1:p.Asp60Tyr
NM_002495.3:c.178G>T	NP_002486.1:p.Asp60Tyr
NR_134473.1:n.380G>T
NR_134474.1:n.297G>T
NR_134475.1:n.332G>T
NM_002495.4:c.178G>T MANE Select	NP_002486.1:p.Asp60Tyr
NM_001318051.2:c.178G>T	NP_001304980.1:p.Asp60Tyr
NR_134473.2:n.374G>T
NR_134474.2:n.291G>T
NR_134475.2:n.326G>T