Canonical Allele Identifier: CA2496487363
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144904G= , CM000664.2:g.206144904G= GRCh38
NC_000002.11:g.207009628G= , CM000664.1:g.207009628G= GRCh37
NC_000002.10:g.206717873G= NCBI36
NG_009248.1:g.19560C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.860C= MANE Select ENSP00000233190.5:p.Ser287=
ENST00000233190.10:c.860C= ENSP00000233190.5:p.Ser287=
ENST00000423725.5:c.689C= ENSP00000397760.1:p.Ser230=
ENST00000432169.5:c.527C= ENSP00000409689.1:p.Ser176=
ENST00000440274.5:c.752C= ENSP00000409766.1:p.Ser251=
ENST00000449699.5:c.860C= ENSP00000399912.1:p.Ser287=
ENST00000455934.6:c.902C= ENSP00000392709.2:p.Ser301=
ENST00000457011.5:c.512C= ENSP00000400976.1:p.Ser171=
NM_001199981.1:c.752C= NP_001186910.1:p.Ser251=
NM_001199982.1:c.527C= NP_001186911.1:p.Ser176=
NM_001199983.1:c.689C= NP_001186912.1:p.Ser230=
NM_001199984.1:c.902C= NP_001186913.1:p.Ser301=
NM_005006.6:c.860C= NP_004997.4:p.Ser287=
XM_017004188.2:c.101C= XP_016859677.1:p.Ser34=
NM_001199981.2:c.752C= NP_001186910.1:p.Ser251=
NM_001199982.2:c.527C= NP_001186911.1:p.Ser176=
NM_001199983.2:c.689C= NP_001186912.1:p.Ser230=
NM_005006.7:c.860C= MANE Select NP_004997.4:p.Ser287=
NM_001199984.2:c.902C= NP_001186913.1:p.Ser301=