Canonical Allele Identifier: CA2496487412
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145010C= , CM000664.2:g.206145010C= GRCh38
NC_000002.11:g.207009734C= , CM000664.1:g.207009734C= GRCh37
NC_000002.10:g.206717979C= NCBI36
NG_009248.1:g.19454G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.754G= MANE Select ENSP00000233190.5:p.Asp252=
ENST00000233190.10:c.754G= ENSP00000233190.5:p.Asp252=
ENST00000423725.5:c.583G= ENSP00000397760.1:p.Asp195=
ENST00000432169.5:c.421G= ENSP00000409689.1:p.Asp141=
ENST00000440274.5:c.646G= ENSP00000409766.1:p.Asp216=
ENST00000449699.5:c.754G= ENSP00000399912.1:p.Asp252=
ENST00000455934.6:c.796G= ENSP00000392709.2:p.Asp266=
ENST00000457011.5:c.406G= ENSP00000400976.1:p.Asp136=
NM_001199981.1:c.646G= NP_001186910.1:p.Asp216=
NM_001199982.1:c.421G= NP_001186911.1:p.Asp141=
NM_001199983.1:c.583G= NP_001186912.1:p.Asp195=
NM_001199984.1:c.796G= NP_001186913.1:p.Asp266=
NM_005006.6:c.754G= NP_004997.4:p.Asp252=
XM_017004188.2:c.-6G= XP_016859677.1:n.-6G=
NM_001199981.2:c.646G= NP_001186910.1:p.Asp216=
NM_001199982.2:c.421G= NP_001186911.1:p.Asp141=
NM_001199983.2:c.583G= NP_001186912.1:p.Asp195=
NM_005006.7:c.754G= MANE Select NP_004997.4:p.Asp252=
NM_001199984.2:c.796G= NP_001186913.1:p.Asp266=