Canonical Allele Identifier: CA2496487410
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145007C= , CM000664.2:g.206145007C= GRCh38
NC_000002.11:g.207009731C= , CM000664.1:g.207009731C= GRCh37
NC_000002.10:g.206717976C= NCBI36
NG_009248.1:g.19457G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.757G= MANE Select ENSP00000233190.5:p.Val253=
ENST00000233190.10:c.757G= ENSP00000233190.5:p.Val253=
ENST00000423725.5:c.586G= ENSP00000397760.1:p.Val196=
ENST00000432169.5:c.424G= ENSP00000409689.1:p.Val142=
ENST00000440274.5:c.649G= ENSP00000409766.1:p.Val217=
ENST00000449699.5:c.757G= ENSP00000399912.1:p.Val253=
ENST00000455934.6:c.799G= ENSP00000392709.2:p.Val267=
ENST00000457011.5:c.409G= ENSP00000400976.1:p.Val137=
NM_001199981.1:c.649G= NP_001186910.1:p.Val217=
NM_001199982.1:c.424G= NP_001186911.1:p.Val142=
NM_001199983.1:c.586G= NP_001186912.1:p.Val196=
NM_001199984.1:c.799G= NP_001186913.1:p.Val267=
NM_005006.6:c.757G= NP_004997.4:p.Val253=
XM_017004188.2:c.-3G= XP_016859677.1:n.-3G=
NM_001199981.2:c.649G= NP_001186910.1:p.Val217=
NM_001199982.2:c.424G= NP_001186911.1:p.Val142=
NM_001199983.2:c.586G= NP_001186912.1:p.Val196=
NM_005006.7:c.757G= MANE Select NP_004997.4:p.Val253=
NM_001199984.2:c.799G= NP_001186913.1:p.Val267=