Canonical Allele Identifier: CA2496487394
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144979A= , CM000664.2:g.206144979A= GRCh38
NC_000002.11:g.207009703A= , CM000664.1:g.207009703A= GRCh37
NC_000002.10:g.206717948A= NCBI36
NG_009248.1:g.19485T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.785T= MANE Select ENSP00000233190.5:p.Val262=
ENST00000233190.10:c.785T= ENSP00000233190.5:p.Val262=
ENST00000423725.5:c.614T= ENSP00000397760.1:p.Val205=
ENST00000432169.5:c.452T= ENSP00000409689.1:p.Val151=
ENST00000440274.5:c.677T= ENSP00000409766.1:p.Val226=
ENST00000449699.5:c.785T= ENSP00000399912.1:p.Val262=
ENST00000455934.6:c.827T= ENSP00000392709.2:p.Val276=
ENST00000457011.5:c.437T= ENSP00000400976.1:p.Val146=
NM_001199981.1:c.677T= NP_001186910.1:p.Val226=
NM_001199982.1:c.452T= NP_001186911.1:p.Val151=
NM_001199983.1:c.614T= NP_001186912.1:p.Val205=
NM_001199984.1:c.827T= NP_001186913.1:p.Val276=
NM_005006.6:c.785T= NP_004997.4:p.Val262=
XM_017004188.2:c.26T= XP_016859677.1:p.Val9=
NM_001199981.2:c.677T= NP_001186910.1:p.Val226=
NM_001199982.2:c.452T= NP_001186911.1:p.Val151=
NM_001199983.2:c.614T= NP_001186912.1:p.Val205=
NM_005006.7:c.785T= MANE Select NP_004997.4:p.Val262=
NM_001199984.2:c.827T= NP_001186913.1:p.Val276=