Canonical Allele Identifier: CA430943625
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.206992695T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127971T>G , CM000664.2:g.206127971T>G GRCh38
NC_000002.11:g.206992695T>G , CM000664.1:g.206992695T>G GRCh37
NC_000002.10:g.206700940T>G NCBI36
NG_009248.1:g.36493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1710A>C MANE Select ENSP00000233190.5:p.Gly570=
ENST00000233190.10:c.1710A>C ENSP00000233190.5:p.Gly570=
ENST00000423725.5:c.1539A>C ENSP00000397760.1:p.Gly513=
ENST00000432169.5:c.1377A>C ENSP00000409689.1:p.Gly459=
ENST00000440274.5:c.1602A>C ENSP00000409766.1:p.Gly534=
ENST00000449699.5:c.1710A>C ENSP00000399912.1:p.Gly570=
ENST00000455934.6:c.1752A>C ENSP00000392709.2:p.Gly584=
ENST00000457011.5:c.1362A>C ENSP00000400976.1:p.Gly454=
ENST00000498520.1:n.182A>C
NM_001199981.1:c.1602A>C NP_001186910.1:p.Gly534=
NM_001199982.1:c.1377A>C NP_001186911.1:p.Gly459=
NM_001199983.1:c.1539A>C NP_001186912.1:p.Gly513=
NM_001199984.1:c.1752A>C NP_001186913.1:p.Gly584=
NM_005006.6:c.1710A>C NP_004997.4:p.Gly570=
XM_017004188.2:c.951A>C XP_016859677.1:p.Gly317=
NM_001199981.2:c.1602A>C NP_001186910.1:p.Gly534=
NM_001199982.2:c.1377A>C NP_001186911.1:p.Gly459=
NM_001199983.2:c.1539A>C NP_001186912.1:p.Gly513=
NM_005006.7:c.1710A>C MANE Select NP_004997.4:p.Gly570=
NM_001199984.2:c.1752A>C NP_001186913.1:p.Gly584=