Canonical Allele Identifier: CA430952923
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.207009674T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144950T>G , CM000664.2:g.206144950T>G GRCh38
NC_000002.11:g.207009674T>G , CM000664.1:g.207009674T>G GRCh37
NC_000002.10:g.206717919T>G NCBI36
NG_009248.1:g.19514A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.814A>C MANE Select ENSP00000233190.5:p.Arg272=
ENST00000233190.10:c.814A>C ENSP00000233190.5:p.Arg272=
ENST00000423725.5:c.643A>C ENSP00000397760.1:p.Arg215=
ENST00000432169.5:c.481A>C ENSP00000409689.1:p.Arg161=
ENST00000440274.5:c.706A>C ENSP00000409766.1:p.Arg236=
ENST00000449699.5:c.814A>C ENSP00000399912.1:p.Arg272=
ENST00000455934.6:c.856A>C ENSP00000392709.2:p.Arg286=
ENST00000457011.5:c.466A>C ENSP00000400976.1:p.Arg156=
NM_001199981.1:c.706A>C NP_001186910.1:p.Arg236=
NM_001199982.1:c.481A>C NP_001186911.1:p.Arg161=
NM_001199983.1:c.643A>C NP_001186912.1:p.Arg215=
NM_001199984.1:c.856A>C NP_001186913.1:p.Arg286=
NM_005006.6:c.814A>C NP_004997.4:p.Arg272=
XM_017004188.2:c.55A>C XP_016859677.1:p.Arg19=
NM_001199981.2:c.706A>C NP_001186910.1:p.Arg236=
NM_001199982.2:c.481A>C NP_001186911.1:p.Arg161=
NM_001199983.2:c.643A>C NP_001186912.1:p.Arg215=
NM_005006.7:c.814A>C MANE Select NP_004997.4:p.Arg272=
NM_001199984.2:c.856A>C NP_001186913.1:p.Arg286=