Canonical Allele Identifier: CA444329694
Gene: NDUFS4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.52856516G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560686G>T , CM000667.2:g.53560686G>T GRCh38
NC_000005.9:g.52856516G>T , CM000667.1:g.52856516G>T GRCh37
NC_000005.8:g.52892273G>T NCBI36
NG_008200.1:g.5052G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.24G>T MANE Select ENSP00000296684.5:p.Val8=
ENST00000296684.9:c.24G>T ENSP00000296684.5:p.Val8=
ENST00000502423.5:c.24G>T ENSP00000422177.1:p.Val8=
ENST00000506765.1:c.12G>T ENSP00000424570.1:p.Val4=
ENST00000506974.5:c.24G>T ENSP00000425967.1:p.Val8=
ENST00000507026.5:c.24G>T ENSP00000424993.1:p.Val8=
NM_002495.2:c.24G>T NP_002486.1:p.Val8=
XM_005248525.3:c.24G>T XP_005248582.1:p.Val8=
XM_011543414.1:c.24G>T XP_011541716.1:p.Val8=
NM_001318051.1:c.24G>T NP_001304980.1:p.Val8=
NM_002495.3:c.24G>T NP_002486.1:p.Val8=
NR_134473.1:n.54G>T
NR_134474.1:n.54G>T
NR_134475.1:n.54G>T
XM_017009491.1:c.24G>T XP_016864980.1:p.Val8=
NM_002495.4:c.24G>T MANE Select NP_002486.1:p.Val8=
NM_001318051.2:c.24G>T NP_001304980.1:p.Val8=
NR_134473.2:n.48G>T
NR_134474.2:n.48G>T
NR_134475.2:n.48G>T