Canonical Allele Identifier: CA63664854
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs10190619
MyVariant Identifiers: chr2:g.206144637A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144637A>C , CM000664.2:g.206144637A>C GRCh38
NC_000002.11:g.207009361A>C , CM000664.1:g.207009361A>C GRCh37
NC_000002.10:g.206717606A>C NCBI36
NG_009248.1:g.19827T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.872+255T>G MANE Select ENSP00000233190.5:n.872+255T>G
ENST00000233190.10:c.872+255T>G ENSP00000233190.5:n.872+255T>G
ENST00000423725.5:c.701+255T>G ENSP00000397760.1:n.701+255T>G
ENST00000432169.5:c.539+255T>G ENSP00000409689.1:n.539+255T>G
ENST00000440274.5:c.764+255T>G ENSP00000409766.1:n.764+255T>G
ENST00000449699.5:c.872+255T>G ENSP00000399912.1:n.872+255T>G
ENST00000455934.6:c.914+255T>G ENSP00000392709.2:n.914+255T>G
ENST00000457011.5:c.524+255T>G ENSP00000400976.1:n.524+255T>G
NM_001199981.1:c.764+255T>G NP_001186910.1:n.764+255T>G
NM_001199982.1:c.539+255T>G NP_001186911.1:n.539+255T>G
NM_001199983.1:c.701+255T>G NP_001186912.1:n.701+255T>G
NM_001199984.1:c.914+255T>G NP_001186913.1:n.914+255T>G
NM_005006.6:c.872+255T>G NP_004997.4:n.872+255T>G
XM_017004188.2:c.113+255T>G XP_016859677.1:n.113+255T>G
NM_001199981.2:c.764+255T>G NP_001186910.1:n.764+255T>G
NM_001199982.2:c.539+255T>G NP_001186911.1:n.539+255T>G
NM_001199983.2:c.701+255T>G NP_001186912.1:n.701+255T>G
NM_005006.7:c.872+255T>G MANE Select NP_004997.4:n.872+255T>G
NM_001199984.2:c.914+255T>G NP_001186913.1:n.914+255T>G