Canonical Allele Identifier: CA430953083
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.207009693T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144969T>C , CM000664.2:g.206144969T>C GRCh38
NC_000002.11:g.207009693T>C , CM000664.1:g.207009693T>C GRCh37
NC_000002.10:g.206717938T>C NCBI36
NG_009248.1:g.19495A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.795A>G MANE Select ENSP00000233190.5:p.Thr265=
ENST00000233190.10:c.795A>G ENSP00000233190.5:p.Thr265=
ENST00000423725.5:c.624A>G ENSP00000397760.1:p.Thr208=
ENST00000432169.5:c.462A>G ENSP00000409689.1:p.Thr154=
ENST00000440274.5:c.687A>G ENSP00000409766.1:p.Thr229=
ENST00000449699.5:c.795A>G ENSP00000399912.1:p.Thr265=
ENST00000455934.6:c.837A>G ENSP00000392709.2:p.Thr279=
ENST00000457011.5:c.447A>G ENSP00000400976.1:p.Thr149=
NM_001199981.1:c.687A>G NP_001186910.1:p.Thr229=
NM_001199982.1:c.462A>G NP_001186911.1:p.Thr154=
NM_001199983.1:c.624A>G NP_001186912.1:p.Thr208=
NM_001199984.1:c.837A>G NP_001186913.1:p.Thr279=
NM_005006.6:c.795A>G NP_004997.4:p.Thr265=
XM_017004188.2:c.36A>G XP_016859677.1:p.Thr12=
NM_001199981.2:c.687A>G NP_001186910.1:p.Thr229=
NM_001199982.2:c.462A>G NP_001186911.1:p.Thr154=
NM_001199983.2:c.624A>G NP_001186912.1:p.Thr208=
NM_005006.7:c.795A>G MANE Select NP_004997.4:p.Thr265=
NM_001199984.2:c.837A>G NP_001186913.1:p.Thr279=