Canonical Allele Identifier: CA3264125

Gene: NDUFS4

Linked Data

• dbSNP Id: rs759267388
• ExAC: 5:52856508 A / T
• gnomAD v2: 5-52856508-A-T
• gnomAD v4: 5-53560678-A-T
• MyVariant Identifiers: chr5:g.52856508A>T (hg19) ; chr5:g.53560678A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560678A>T , CM000667.2:g.53560678A>T	GRCh38
NC_000005.9:g.52856508A>T , CM000667.1:g.52856508A>T	GRCh37
NC_000005.8:g.52892265A>T	NCBI36
NG_008200.1:g.5044A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.16A>T MANE Select	ENSP00000296684.5:p.Met6Leu
ENST00000296684.9:c.16A>T	ENSP00000296684.5:p.Met6Leu
ENST00000502423.5:c.16A>T	ENSP00000422177.1:p.Met6Leu
ENST00000506765.1:c.4A>T	ENSP00000424570.1:p.Met2Leu
ENST00000506974.5:c.16A>T	ENSP00000425967.1:p.Met6Leu
ENST00000507026.5:c.16A>T	ENSP00000424993.1:p.Met6Leu
NM_002495.2:c.16A>T	NP_002486.1:p.Met6Leu
XM_005248525.3:c.16A>T	XP_005248582.1:p.Met6Leu
XM_011543414.1:c.16A>T	XP_011541716.1:p.Met6Leu
NM_001318051.1:c.16A>T	NP_001304980.1:p.Met6Leu
NM_002495.3:c.16A>T	NP_002486.1:p.Met6Leu
NR_134473.1:n.46A>T
NR_134474.1:n.46A>T
NR_134475.1:n.46A>T
XM_017009491.1:c.16A>T	XP_016864980.1:p.Met6Leu
NM_002495.4:c.16A>T MANE Select	NP_002486.1:p.Met6Leu
NM_001318051.2:c.16A>T	NP_001304980.1:p.Met6Leu
NR_134473.2:n.40A>T
NR_134474.2:n.40A>T
NR_134475.2:n.40A>T