Canonical Allele Identifier: CA430953063
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1340667509
MyVariant Identifiers: chr2:g.207009690T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144966T>C , CM000664.2:g.206144966T>C GRCh38
NC_000002.11:g.207009690T>C , CM000664.1:g.207009690T>C GRCh37
NC_000002.10:g.206717935T>C NCBI36
NG_009248.1:g.19498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.798A>G MANE Select ENSP00000233190.5:p.Arg266=
ENST00000233190.10:c.798A>G ENSP00000233190.5:p.Arg266=
ENST00000423725.5:c.627A>G ENSP00000397760.1:p.Arg209=
ENST00000432169.5:c.465A>G ENSP00000409689.1:p.Arg155=
ENST00000440274.5:c.690A>G ENSP00000409766.1:p.Arg230=
ENST00000449699.5:c.798A>G ENSP00000399912.1:p.Arg266=
ENST00000455934.6:c.840A>G ENSP00000392709.2:p.Arg280=
ENST00000457011.5:c.450A>G ENSP00000400976.1:p.Arg150=
NM_001199981.1:c.690A>G NP_001186910.1:p.Arg230=
NM_001199982.1:c.465A>G NP_001186911.1:p.Arg155=
NM_001199983.1:c.627A>G NP_001186912.1:p.Arg209=
NM_001199984.1:c.840A>G NP_001186913.1:p.Arg280=
NM_005006.6:c.798A>G NP_004997.4:p.Arg266=
XM_017004188.2:c.39A>G XP_016859677.1:p.Arg13=
NM_001199981.2:c.690A>G NP_001186910.1:p.Arg230=
NM_001199982.2:c.465A>G NP_001186911.1:p.Arg155=
NM_001199983.2:c.627A>G NP_001186912.1:p.Arg209=
NM_005006.7:c.798A>G MANE Select NP_004997.4:p.Arg266=
NM_001199984.2:c.840A>G NP_001186913.1:p.Arg280=