Canonical Allele Identifier: CA2070352
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs768294996

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127921G>C , CM000664.2:g.206127921G>C GRCh38
NC_000002.11:g.206992645G>C , CM000664.1:g.206992645G>C GRCh37
NC_000002.10:g.206700890G>C NCBI36
NG_009248.1:g.36543C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1760C>G MANE Select ENSP00000233190.5:p.Ala587Gly
ENST00000233190.10:c.1760C>G ENSP00000233190.5:p.Ala587Gly
ENST00000423725.5:c.1589C>G ENSP00000397760.1:p.Ala530Gly
ENST00000432169.5:c.1427C>G ENSP00000409689.1:p.Ala476Gly
ENST00000440274.5:c.1652C>G ENSP00000409766.1:p.Ala551Gly
ENST00000449699.5:c.1760C>G ENSP00000399912.1:p.Ala587Gly
ENST00000455934.6:c.1802C>G ENSP00000392709.2:p.Ala601Gly
ENST00000457011.5:c.1412C>G ENSP00000400976.1:p.Ala471Gly
ENST00000498520.1:n.232C>G
NM_001199981.1:c.1652C>G NP_001186910.1:p.Ala551Gly
NM_001199982.1:c.1427C>G NP_001186911.1:p.Ala476Gly
NM_001199983.1:c.1589C>G NP_001186912.1:p.Ala530Gly
NM_001199984.1:c.1802C>G NP_001186913.1:p.Ala601Gly
NM_005006.6:c.1760C>G NP_004997.4:p.Ala587Gly
XM_017004188.2:c.1001C>G XP_016859677.1:p.Ala334Gly
NM_001199981.2:c.1652C>G NP_001186910.1:p.Ala551Gly
NM_001199982.2:c.1427C>G NP_001186911.1:p.Ala476Gly
NM_001199983.2:c.1589C>G NP_001186912.1:p.Ala530Gly
NM_005006.7:c.1760C>G MANE Select NP_004997.4:p.Ala587Gly
NM_001199984.2:c.1802C>G NP_001186913.1:p.Ala601Gly