Canonical Allele Identifier: CA221735679

Gene: NDUFS3

Linked Data

• dbSNP Id: rs555303915
• gnomAD v2: 11-47604178-A-G
• gnomAD v3: 11-47582626-A-G
• gnomAD v4: 11-47582626-A-G
• MyVariant Identifiers: chr11:g.47604178A>G (hg19) ; chr11:g.47582626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582626A>G , CM000673.2:g.47582626A>G	GRCh38
NC_000011.9:g.47604178A>G , CM000673.1:g.47604178A>G	GRCh37
NC_000011.8:g.47560754A>G	NCBI36
NG_011946.1:g.8617A>G
NG_011946.2:g.8617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.627+158A>G MANE Select	ENSP00000263774.4:n.627+158A>G
ENST00000531351.2:n.1822+158A>G
ENST00000677462.1:n.3101+158A>G
ENST00000678975.1:n.2884+158A>G
ENST00000263774.8:c.627+158A>G	ENSP00000263774.4:n.627+158A>G
ENST00000525212.1:n.282+158A>G
ENST00000525378.5:n.565+158A>G
ENST00000527178.1:n.227+158A>G
ENST00000533507.5:n.1521+158A>G
NM_004551.2:c.627+158A>G	NP_004542.1:n.627+158A>G
NM_004551.3:c.627+158A>G MANE Select	NP_004542.1:n.627+158A>G