Canonical Allele Identifier: CA430943307
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.206992626A>T (hg19)

Genomic Alleles

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

Transcript Alleles

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