Canonical Allele Identifier: CA2496487413
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145012A= , CM000664.2:g.206145012A= GRCh38
NC_000002.11:g.207009736A= , CM000664.1:g.207009736A= GRCh37
NC_000002.10:g.206717981A= NCBI36
NG_009248.1:g.19452T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.752T= MANE Select ENSP00000233190.5:p.Ile251=
ENST00000233190.10:c.752T= ENSP00000233190.5:p.Ile251=
ENST00000423725.5:c.581T= ENSP00000397760.1:p.Ile194=
ENST00000432169.5:c.419T= ENSP00000409689.1:p.Ile140=
ENST00000440274.5:c.644T= ENSP00000409766.1:p.Ile215=
ENST00000449699.5:c.752T= ENSP00000399912.1:p.Ile251=
ENST00000455934.6:c.794T= ENSP00000392709.2:p.Ile265=
ENST00000457011.5:c.404T= ENSP00000400976.1:p.Ile135=
NM_001199981.1:c.644T= NP_001186910.1:p.Ile215=
NM_001199982.1:c.419T= NP_001186911.1:p.Ile140=
NM_001199983.1:c.581T= NP_001186912.1:p.Ile194=
NM_001199984.1:c.794T= NP_001186913.1:p.Ile265=
NM_005006.6:c.752T= NP_004997.4:p.Ile251=
XM_017004188.2:c.-8T= XP_016859677.1:n.-8T=
NM_001199981.2:c.644T= NP_001186910.1:p.Ile215=
NM_001199982.2:c.419T= NP_001186911.1:p.Ile140=
NM_001199983.2:c.581T= NP_001186912.1:p.Ile194=
NM_005006.7:c.752T= MANE Select NP_004997.4:p.Ile251=
NM_001199984.2:c.794T= NP_001186913.1:p.Ile265=