Canonical Allele Identifier: CA350057780

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1160012172
• gnomAD v2: 2-207009743-C-T
• MyVariant Identifiers: chr2:g.207009743C>T (hg19) ; chr2:g.206145019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145019C>T , CM000664.2:g.206145019C>T	GRCh38
NC_000002.11:g.207009743C>T , CM000664.1:g.207009743C>T	GRCh37
NC_000002.10:g.206717988C>T	NCBI36
NG_009248.1:g.19445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.745G>A MANE Select	ENSP00000233190.5:p.Glu249Lys
ENST00000233190.10:c.745G>A	ENSP00000233190.5:p.Glu249Lys
ENST00000423725.5:c.574G>A	ENSP00000397760.1:p.Glu192Lys
ENST00000432169.5:c.412G>A	ENSP00000409689.1:p.Glu138Lys
ENST00000440274.5:c.637G>A	ENSP00000409766.1:p.Glu213Lys
ENST00000449699.5:c.745G>A	ENSP00000399912.1:p.Glu249Lys
ENST00000455934.6:c.787G>A	ENSP00000392709.2:p.Glu263Lys
ENST00000457011.5:c.397G>A	ENSP00000400976.1:p.Glu133Lys
NM_001199981.1:c.637G>A	NP_001186910.1:p.Glu213Lys
NM_001199982.1:c.412G>A	NP_001186911.1:p.Glu138Lys
NM_001199983.1:c.574G>A	NP_001186912.1:p.Glu192Lys
NM_001199984.1:c.787G>A	NP_001186913.1:p.Glu263Lys
NM_005006.6:c.745G>A	NP_004997.4:p.Glu249Lys
XM_017004188.2:c.-15G>A	XP_016859677.1:n.-15G>A
NM_001199981.2:c.637G>A	NP_001186910.1:p.Glu213Lys
NM_001199982.2:c.412G>A	NP_001186911.1:p.Glu138Lys
NM_001199983.2:c.574G>A	NP_001186912.1:p.Glu192Lys
NM_005006.7:c.745G>A MANE Select	NP_004997.4:p.Glu249Lys
NM_001199984.2:c.787G>A	NP_001186913.1:p.Glu263Lys