Canonical Allele Identifier: CA221735673
Gene: NDUFS3 HGNC NCBI

Linked Data

dbSNP Id: rs781378498
gnomAD v2: 11-47604119-G-A
gnomAD v3: 11-47582567-G-A
gnomAD v4: 11-47582567-G-A
MyVariant Identifiers: chr11:g.47604119G>A (hg19) chr11:g.47582567G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582567G>A , CM000673.2:g.47582567G>A GRCh38
NC_000011.9:g.47604119G>A , CM000673.1:g.47604119G>A GRCh37
NC_000011.8:g.47560695G>A NCBI36
NG_011946.1:g.8558G>A
NG_011946.2:g.8558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.627+99G>A MANE Select ENSP00000263774.4:n.627+99G>A
ENST00000531351.2:n.1822+99G>A
ENST00000677462.1:n.3101+99G>A
ENST00000678975.1:n.2884+99G>A
ENST00000263774.8:c.627+99G>A ENSP00000263774.4:n.627+99G>A
ENST00000525212.1:n.282+99G>A
ENST00000525378.5:n.565+99G>A
ENST00000527178.1:n.227+99G>A
ENST00000533507.5:n.1521+99G>A
NM_004551.2:c.627+99G>A NP_004542.1:n.627+99G>A
NM_004551.3:c.627+99G>A MANE Select NP_004542.1:n.627+99G>A
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