Canonical Allele Identifier: CA380362081

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47604013A>C (hg19) ; chr11:g.47582461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582461A>C , CM000673.2:g.47582461A>C	GRCh38
NC_000011.9:g.47604013A>C , CM000673.1:g.47604013A>C	GRCh37
NC_000011.8:g.47560589A>C	NCBI36
NG_011946.1:g.8452A>C
NG_011946.2:g.8452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.620A>C MANE Select	ENSP00000263774.4:p.Tyr207Ser
ENST00000531351.2:n.1815A>C
ENST00000677462.1:n.3094A>C
ENST00000678975.1:n.2877A>C
ENST00000263774.8:c.620A>C	ENSP00000263774.4:p.Tyr207Ser
ENST00000524568.1:n.723A>C
ENST00000525212.1:n.275A>C
ENST00000525378.5:n.558A>C
ENST00000527178.1:n.220A>C
ENST00000533507.5:n.1514A>C
NM_004551.2:c.620A>C	NP_004542.1:p.Tyr207Ser
NM_004551.3:c.620A>C MANE Select	NP_004542.1:p.Tyr207Ser