Canonical Allele Identifier: CA380361936

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603980A>C (hg19) ; chr11:g.47582428A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582428A>C , CM000673.2:g.47582428A>C	GRCh38
NC_000011.9:g.47603980A>C , CM000673.1:g.47603980A>C	GRCh37
NC_000011.8:g.47560556A>C	NCBI36
NG_011946.1:g.8419A>C
NG_011946.2:g.8419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.587A>C MANE Select	ENSP00000263774.4:p.His196Pro
ENST00000531351.2:n.1782A>C
ENST00000677462.1:n.3061A>C
ENST00000678975.1:n.2844A>C
ENST00000263774.8:c.587A>C	ENSP00000263774.4:p.His196Pro
ENST00000524568.1:n.690A>C
ENST00000525212.1:n.242A>C
ENST00000525378.5:n.525A>C
ENST00000527178.1:n.187A>C
ENST00000533507.5:n.1481A>C
NM_004551.2:c.587A>C	NP_004542.1:p.His196Pro
NM_004551.3:c.587A>C MANE Select	NP_004542.1:p.His196Pro