Canonical Allele Identifier: CA430953037
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.207009687A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144963A>C , CM000664.2:g.206144963A>C GRCh38
NC_000002.11:g.207009687A>C , CM000664.1:g.207009687A>C GRCh37
NC_000002.10:g.206717932A>C NCBI36
NG_009248.1:g.19501T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.801T>G MANE Select ENSP00000233190.5:p.Thr267=
ENST00000233190.10:c.801T>G ENSP00000233190.5:p.Thr267=
ENST00000423725.5:c.630T>G ENSP00000397760.1:p.Thr210=
ENST00000432169.5:c.468T>G ENSP00000409689.1:p.Thr156=
ENST00000440274.5:c.693T>G ENSP00000409766.1:p.Thr231=
ENST00000449699.5:c.801T>G ENSP00000399912.1:p.Thr267=
ENST00000455934.6:c.843T>G ENSP00000392709.2:p.Thr281=
ENST00000457011.5:c.453T>G ENSP00000400976.1:p.Thr151=
NM_001199981.1:c.693T>G NP_001186910.1:p.Thr231=
NM_001199982.1:c.468T>G NP_001186911.1:p.Thr156=
NM_001199983.1:c.630T>G NP_001186912.1:p.Thr210=
NM_001199984.1:c.843T>G NP_001186913.1:p.Thr281=
NM_005006.6:c.801T>G NP_004997.4:p.Thr267=
XM_017004188.2:c.42T>G XP_016859677.1:p.Thr14=
NM_001199981.2:c.693T>G NP_001186910.1:p.Thr231=
NM_001199982.2:c.468T>G NP_001186911.1:p.Thr156=
NM_001199983.2:c.630T>G NP_001186912.1:p.Thr210=
NM_005006.7:c.801T>G MANE Select NP_004997.4:p.Thr267=
NM_001199984.2:c.843T>G NP_001186913.1:p.Thr281=