Canonical Allele Identifier: CA2496487418
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145023C= , CM000664.2:g.206145023C= GRCh38
NC_000002.11:g.207009747C= , CM000664.1:g.207009747C= GRCh37
NC_000002.10:g.206717992C= NCBI36
NG_009248.1:g.19441G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.741G= MANE Select ENSP00000233190.5:p.Lys247=
ENST00000233190.10:c.741G= ENSP00000233190.5:p.Lys247=
ENST00000423725.5:c.570G= ENSP00000397760.1:p.Lys190=
ENST00000432169.5:c.408G= ENSP00000409689.1:p.Lys136=
ENST00000440274.5:c.633G= ENSP00000409766.1:p.Lys211=
ENST00000449699.5:c.741G= ENSP00000399912.1:p.Lys247=
ENST00000455934.6:c.783G= ENSP00000392709.2:p.Lys261=
ENST00000457011.5:c.393G= ENSP00000400976.1:p.Lys131=
NM_001199981.1:c.633G= NP_001186910.1:p.Lys211=
NM_001199982.1:c.408G= NP_001186911.1:p.Lys136=
NM_001199983.1:c.570G= NP_001186912.1:p.Lys190=
NM_001199984.1:c.783G= NP_001186913.1:p.Lys261=
NM_005006.6:c.741G= NP_004997.4:p.Lys247=
XM_017004188.2:c.-19G= XP_016859677.1:n.-19G=
NM_001199981.2:c.633G= NP_001186910.1:p.Lys211=
NM_001199982.2:c.408G= NP_001186911.1:p.Lys136=
NM_001199983.2:c.570G= NP_001186912.1:p.Lys190=
NM_005006.7:c.741G= MANE Select NP_004997.4:p.Lys247=
NM_001199984.2:c.783G= NP_001186913.1:p.Lys261=