Canonical Allele Identifier: CA323413
Gene: NDUFS4 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.53560675T>C
GRCh37 chr5:g.52856505T>C
Revel Score:
ENST00000296684 (MANE Select) 0.237
ENST00000506765 0.237
gnomAD v2:
5:52856505 T / C
gnomAD v3:
5:53560675 T / C
gnomAD v4:
chr5-53560675-T-C
Joint Max Group AF 0.00012743 (AMR)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00015445 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560675T>C , CM000667.2:g.53560675T>C GRCh38
NC_000005.9:g.52856505T>C , CM000667.1:g.52856505T>C GRCh37
NC_000005.8:g.52892262T>C NCBI36
NG_008200.1:g.5041T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.13T>C MANE Select ENSP00000296684.5:p.Ser5Pro
ENST00000296684.9:c.13T>C ENSP00000296684.5:p.Ser5Pro
ENST00000502423.5:c.13T>C ENSP00000422177.1:p.Ser5Pro
ENST00000506765.1:c.1T>C ENSP00000424570.1:p.Ser1Pro
ENST00000506974.5:c.13T>C ENSP00000425967.1:p.Ser5Pro
ENST00000507026.5:c.13T>C ENSP00000424993.1:p.Ser5Pro
NM_002495.2:c.13T>C NP_002486.1:p.Ser5Pro
XM_005248525.3:c.13T>C XP_005248582.1:p.Ser5Pro
XM_011543414.1:c.13T>C XP_011541716.1:p.Ser5Pro
NM_001318051.1:c.13T>C NP_001304980.1:p.Ser5Pro
NM_002495.3:c.13T>C NP_002486.1:p.Ser5Pro
NR_134473.1:n.43T>C
NR_134474.1:n.43T>C
NR_134475.1:n.43T>C
XM_017009491.1:c.13T>C XP_016864980.1:p.Ser5Pro
NM_002495.4:c.13T>C MANE Select NP_002486.1:p.Ser5Pro
NM_001318051.2:c.13T>C NP_001304980.1:p.Ser5Pro
NR_134473.2:n.37T>C
NR_134474.2:n.37T>C
NR_134475.2:n.37T>C
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