Canonical Allele Identifier: CA2496479138
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127946T= , CM000664.2:g.206127946T= GRCh38
NC_000002.11:g.206992670T= , CM000664.1:g.206992670T= GRCh37
NC_000002.10:g.206700915T= NCBI36
NG_009248.1:g.36518A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1735A= MANE Select ENSP00000233190.5:p.Ile579=
ENST00000233190.10:c.1735A= ENSP00000233190.5:p.Ile579=
ENST00000423725.5:c.1564A= ENSP00000397760.1:p.Ile522=
ENST00000432169.5:c.1402A= ENSP00000409689.1:p.Ile468=
ENST00000440274.5:c.1627A= ENSP00000409766.1:p.Ile543=
ENST00000449699.5:c.1735A= ENSP00000399912.1:p.Ile579=
ENST00000455934.6:c.1777A= ENSP00000392709.2:p.Ile593=
ENST00000457011.5:c.1387A= ENSP00000400976.1:p.Ile463=
ENST00000498520.1:n.207A=
NM_001199981.1:c.1627A= NP_001186910.1:p.Ile543=
NM_001199982.1:c.1402A= NP_001186911.1:p.Ile468=
NM_001199983.1:c.1564A= NP_001186912.1:p.Ile522=
NM_001199984.1:c.1777A= NP_001186913.1:p.Ile593=
NM_005006.6:c.1735A= NP_004997.4:p.Ile579=
XM_017004188.2:c.976A= XP_016859677.1:p.Ile326=
NM_001199981.2:c.1627A= NP_001186910.1:p.Ile543=
NM_001199982.2:c.1402A= NP_001186911.1:p.Ile468=
NM_001199983.2:c.1564A= NP_001186912.1:p.Ile522=
NM_005006.7:c.1735A= MANE Select NP_004997.4:p.Ile579=
NM_001199984.2:c.1777A= NP_001186913.1:p.Ile593=