Canonical Allele Identifier: CA430943304

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691355144
• COSMIC: COSM5761027 ; COSM5878554
• MyVariant Identifiers: chr2:g.206992626A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127902A>C , CM000664.2:g.206127902A>C	GRCh38
NC_000002.11:g.206992626A>C , CM000664.1:g.206992626A>C	GRCh37
NC_000002.10:g.206700871A>C	NCBI36
NG_009248.1:g.36562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1779T>G MANE Select	ENSP00000233190.5:p.Ser593=
ENST00000233190.10:c.1779T>G	ENSP00000233190.5:p.Ser593=
ENST00000423725.5:c.1608T>G	ENSP00000397760.1:p.Ser536=
ENST00000432169.5:c.1446T>G	ENSP00000409689.1:p.Ser482=
ENST00000440274.5:c.1671T>G	ENSP00000409766.1:p.Ser557=
ENST00000449699.5:c.1779T>G	ENSP00000399912.1:p.Ser593=
ENST00000455934.6:c.1821T>G	ENSP00000392709.2:p.Ser607=
ENST00000457011.5:c.1431T>G	ENSP00000400976.1:p.Ser477=
ENST00000498520.1:n.251T>G
NM_001199981.1:c.1671T>G	NP_001186910.1:p.Ser557=
NM_001199982.1:c.1446T>G	NP_001186911.1:p.Ser482=
NM_001199983.1:c.1608T>G	NP_001186912.1:p.Ser536=
NM_001199984.1:c.1821T>G	NP_001186913.1:p.Ser607=
NM_005006.6:c.1779T>G	NP_004997.4:p.Ser593=
XM_017004188.2:c.1020T>G	XP_016859677.1:p.Ser340=
NM_001199981.2:c.1671T>G	NP_001186910.1:p.Ser557=
NM_001199982.2:c.1446T>G	NP_001186911.1:p.Ser482=
NM_001199983.2:c.1608T>G	NP_001186912.1:p.Ser536=
NM_005006.7:c.1779T>G MANE Select	NP_004997.4:p.Ser593=
NM_001199984.2:c.1821T>G	NP_001186913.1:p.Ser607=