Canonical Allele Identifier: CA2496479055
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127750A= , CM000664.2:g.206127750A= GRCh38
NC_000002.11:g.206992474A= , CM000664.1:g.206992474A= GRCh37
NC_000002.10:g.206700719A= NCBI36
NG_009248.1:g.36714T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1884+47T= MANE Select ENSP00000233190.5:n.1884+47T=
ENST00000233190.10:c.1884+47T= ENSP00000233190.5:n.1884+47T=
ENST00000423725.5:c.1713+47T= ENSP00000397760.1:n.1713+47T=
ENST00000432169.5:c.1551+47T= ENSP00000409689.1:n.1551+47T=
ENST00000440274.5:c.1776+47T= ENSP00000409766.1:n.1776+47T=
ENST00000449699.5:c.1884+47T= ENSP00000399912.1:n.1884+47T=
ENST00000455934.6:c.1926+47T= ENSP00000392709.2:n.1926+47T=
ENST00000457011.5:c.1536+47T= ENSP00000400976.1:n.1536+47T=
ENST00000498520.1:n.403T=
NM_001199981.1:c.1776+47T= NP_001186910.1:n.1776+47T=
NM_001199982.1:c.1551+47T= NP_001186911.1:n.1551+47T=
NM_001199983.1:c.1713+47T= NP_001186912.1:n.1713+47T=
NM_001199984.1:c.1926+47T= NP_001186913.1:n.1926+47T=
NM_005006.6:c.1884+47T= NP_004997.4:n.1884+47T=
XM_017004188.2:c.1125+47T= XP_016859677.1:n.1125+47T=
NM_001199981.2:c.1776+47T= NP_001186910.1:n.1776+47T=
NM_001199982.2:c.1551+47T= NP_001186911.1:n.1551+47T=
NM_001199983.2:c.1713+47T= NP_001186912.1:n.1713+47T=
NM_005006.7:c.1884+47T= MANE Select NP_004997.4:n.1884+47T=
NM_001199984.2:c.1926+47T= NP_001186913.1:n.1926+47T=