Canonical Allele Identifier: CA430953322
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.207009714T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144990T>G , CM000664.2:g.206144990T>G GRCh38
NC_000002.11:g.207009714T>G , CM000664.1:g.207009714T>G GRCh37
NC_000002.10:g.206717959T>G NCBI36
NG_009248.1:g.19474A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.774A>C MANE Select ENSP00000233190.5:p.Gly258=
ENST00000233190.10:c.774A>C ENSP00000233190.5:p.Gly258=
ENST00000423725.5:c.603A>C ENSP00000397760.1:p.Gly201=
ENST00000432169.5:c.441A>C ENSP00000409689.1:p.Gly147=
ENST00000440274.5:c.666A>C ENSP00000409766.1:p.Gly222=
ENST00000449699.5:c.774A>C ENSP00000399912.1:p.Gly258=
ENST00000455934.6:c.816A>C ENSP00000392709.2:p.Gly272=
ENST00000457011.5:c.426A>C ENSP00000400976.1:p.Gly142=
NM_001199981.1:c.666A>C NP_001186910.1:p.Gly222=
NM_001199982.1:c.441A>C NP_001186911.1:p.Gly147=
NM_001199983.1:c.603A>C NP_001186912.1:p.Gly201=
NM_001199984.1:c.816A>C NP_001186913.1:p.Gly272=
NM_005006.6:c.774A>C NP_004997.4:p.Gly258=
XM_017004188.2:c.15A>C XP_016859677.1:p.Gly5=
NM_001199981.2:c.666A>C NP_001186910.1:p.Gly222=
NM_001199982.2:c.441A>C NP_001186911.1:p.Gly147=
NM_001199983.2:c.603A>C NP_001186912.1:p.Gly201=
NM_005006.7:c.774A>C MANE Select NP_004997.4:p.Gly258=
NM_001199984.2:c.816A>C NP_001186913.1:p.Gly272=