Canonical Allele Identifier: CA350043458

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992624G>C (hg19) ; chr2:g.206127900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127900G>C , CM000664.2:g.206127900G>C	GRCh38
NC_000002.11:g.206992624G>C , CM000664.1:g.206992624G>C	GRCh37
NC_000002.10:g.206700869G>C	NCBI36
NG_009248.1:g.36564C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1781C>G MANE Select	ENSP00000233190.5:p.Ala594Gly
ENST00000233190.10:c.1781C>G	ENSP00000233190.5:p.Ala594Gly
ENST00000423725.5:c.1610C>G	ENSP00000397760.1:p.Ala537Gly
ENST00000432169.5:c.1448C>G	ENSP00000409689.1:p.Ala483Gly
ENST00000440274.5:c.1673C>G	ENSP00000409766.1:p.Ala558Gly
ENST00000449699.5:c.1781C>G	ENSP00000399912.1:p.Ala594Gly
ENST00000455934.6:c.1823C>G	ENSP00000392709.2:p.Ala608Gly
ENST00000457011.5:c.1433C>G	ENSP00000400976.1:p.Ala478Gly
ENST00000498520.1:n.253C>G
NM_001199981.1:c.1673C>G	NP_001186910.1:p.Ala558Gly
NM_001199982.1:c.1448C>G	NP_001186911.1:p.Ala483Gly
NM_001199983.1:c.1610C>G	NP_001186912.1:p.Ala537Gly
NM_001199984.1:c.1823C>G	NP_001186913.1:p.Ala608Gly
NM_005006.6:c.1781C>G	NP_004997.4:p.Ala594Gly
XM_017004188.2:c.1022C>G	XP_016859677.1:p.Ala341Gly
NM_001199981.2:c.1673C>G	NP_001186910.1:p.Ala558Gly
NM_001199982.2:c.1448C>G	NP_001186911.1:p.Ala483Gly
NM_001199983.2:c.1610C>G	NP_001186912.1:p.Ala537Gly
NM_005006.7:c.1781C>G MANE Select	NP_004997.4:p.Ala594Gly
NM_001199984.2:c.1823C>G	NP_001186913.1:p.Ala608Gly