Canonical Allele Identifier: CA2496487419
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145024T= , CM000664.2:g.206145024T= GRCh38
NC_000002.11:g.207009748T= , CM000664.1:g.207009748T= GRCh37
NC_000002.10:g.206717993T= NCBI36
NG_009248.1:g.19440A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.740A= MANE Select ENSP00000233190.5:p.Lys247=
ENST00000233190.10:c.740A= ENSP00000233190.5:p.Lys247=
ENST00000423725.5:c.569A= ENSP00000397760.1:p.Lys190=
ENST00000432169.5:c.407A= ENSP00000409689.1:p.Lys136=
ENST00000440274.5:c.632A= ENSP00000409766.1:p.Lys211=
ENST00000449699.5:c.740A= ENSP00000399912.1:p.Lys247=
ENST00000455934.6:c.782A= ENSP00000392709.2:p.Lys261=
ENST00000457011.5:c.392A= ENSP00000400976.1:p.Lys131=
NM_001199981.1:c.632A= NP_001186910.1:p.Lys211=
NM_001199982.1:c.407A= NP_001186911.1:p.Lys136=
NM_001199983.1:c.569A= NP_001186912.1:p.Lys190=
NM_001199984.1:c.782A= NP_001186913.1:p.Lys261=
NM_005006.6:c.740A= NP_004997.4:p.Lys247=
XM_017004188.2:c.-20A= XP_016859677.1:n.-20A=
NM_001199981.2:c.632A= NP_001186910.1:p.Lys211=
NM_001199982.2:c.407A= NP_001186911.1:p.Lys136=
NM_001199983.2:c.569A= NP_001186912.1:p.Lys190=
NM_005006.7:c.740A= MANE Select NP_004997.4:p.Lys247=
NM_001199984.2:c.782A= NP_001186913.1:p.Lys261=