Canonical Allele Identifier: CA2496487377
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144944A= , CM000664.2:g.206144944A= GRCh38
NC_000002.11:g.207009668A= , CM000664.1:g.207009668A= GRCh37
NC_000002.10:g.206717913A= NCBI36
NG_009248.1:g.19520T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.820T= MANE Select ENSP00000233190.5:p.Leu274=
ENST00000233190.10:c.820T= ENSP00000233190.5:p.Leu274=
ENST00000423725.5:c.649T= ENSP00000397760.1:p.Leu217=
ENST00000432169.5:c.487T= ENSP00000409689.1:p.Leu163=
ENST00000440274.5:c.712T= ENSP00000409766.1:p.Leu238=
ENST00000449699.5:c.820T= ENSP00000399912.1:p.Leu274=
ENST00000455934.6:c.862T= ENSP00000392709.2:p.Leu288=
ENST00000457011.5:c.472T= ENSP00000400976.1:p.Leu158=
NM_001199981.1:c.712T= NP_001186910.1:p.Leu238=
NM_001199982.1:c.487T= NP_001186911.1:p.Leu163=
NM_001199983.1:c.649T= NP_001186912.1:p.Leu217=
NM_001199984.1:c.862T= NP_001186913.1:p.Leu288=
NM_005006.6:c.820T= NP_004997.4:p.Leu274=
XM_017004188.2:c.61T= XP_016859677.1:p.Leu21=
NM_001199981.2:c.712T= NP_001186910.1:p.Leu238=
NM_001199982.2:c.487T= NP_001186911.1:p.Leu163=
NM_001199983.2:c.649T= NP_001186912.1:p.Leu217=
NM_005006.7:c.820T= MANE Select NP_004997.4:p.Leu274=
NM_001199984.2:c.862T= NP_001186913.1:p.Leu288=