Canonical Allele Identifier: CA359719567

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646248-A-T
• MyVariant Identifiers: chr5:g.52942078A>T (hg19) ; chr5:g.53646248A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646248A>T , CM000667.2:g.53646248A>T	GRCh38
NC_000005.9:g.52942078A>T , CM000667.1:g.52942078A>T	GRCh37
NC_000005.8:g.52977835A>T	NCBI36
NG_008200.1:g.90614A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.193A>T MANE Select	ENSP00000296684.5:p.Thr65Ser
ENST00000296684.9:c.193A>T	ENSP00000296684.5:p.Thr65Ser
ENST00000502423.5:c.*60A>T	ENSP00000422177.1:n.*60A>T
ENST00000506765.1:c.181A>T	ENSP00000424570.1:p.Thr61Ser
ENST00000506974.5:c.365A>T	ENSP00000425967.1:p.Asn122Ile
ENST00000507026.5:c.*167A>T	ENSP00000424993.1:n.*167A>T
ENST00000509443.1:n.54A>T
NM_002495.2:c.193A>T	NP_002486.1:p.Thr65Ser
XM_005248525.3:c.193A>T	XP_005248582.1:p.Thr65Ser
XM_011543415.1:c.19A>T	XP_011541717.1:p.Thr7Ser
NM_001318051.1:c.193A>T	NP_001304980.1:p.Thr65Ser
NM_002495.3:c.193A>T	NP_002486.1:p.Thr65Ser
NR_134473.1:n.395A>T
NR_134474.1:n.312A>T
NR_134475.1:n.347A>T
NM_002495.4:c.193A>T MANE Select	NP_002486.1:p.Thr65Ser
NM_001318051.2:c.193A>T	NP_001304980.1:p.Thr65Ser
NR_134473.2:n.389A>T
NR_134474.2:n.306A>T
NR_134475.2:n.341A>T