Canonical Allele Identifier: CA2070653

Gene: NDUFS1

Linked Data

• dbSNP Id: rs765034486
• ExAC: 2:207009699 A / C
• gnomAD v2: 2-207009699-A-C
• MyVariant Identifiers: chr2:g.207009699A>C (hg19) ; chr2:g.206144975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144975A>C , CM000664.2:g.206144975A>C	GRCh38
NC_000002.11:g.207009699A>C , CM000664.1:g.207009699A>C	GRCh37
NC_000002.10:g.206717944A>C	NCBI36
NG_009248.1:g.19489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.789T>G MANE Select	ENSP00000233190.5:p.Val263=
ENST00000233190.10:c.789T>G	ENSP00000233190.5:p.Val263=
ENST00000423725.5:c.618T>G	ENSP00000397760.1:p.Val206=
ENST00000432169.5:c.456T>G	ENSP00000409689.1:p.Val152=
ENST00000440274.5:c.681T>G	ENSP00000409766.1:p.Val227=
ENST00000449699.5:c.789T>G	ENSP00000399912.1:p.Val263=
ENST00000455934.6:c.831T>G	ENSP00000392709.2:p.Val277=
ENST00000457011.5:c.441T>G	ENSP00000400976.1:p.Val147=
NM_001199981.1:c.681T>G	NP_001186910.1:p.Val227=
NM_001199982.1:c.456T>G	NP_001186911.1:p.Val152=
NM_001199983.1:c.618T>G	NP_001186912.1:p.Val206=
NM_001199984.1:c.831T>G	NP_001186913.1:p.Val277=
NM_005006.6:c.789T>G	NP_004997.4:p.Val263=
XM_017004188.2:c.30T>G	XP_016859677.1:p.Val10=
NM_001199981.2:c.681T>G	NP_001186910.1:p.Val227=
NM_001199982.2:c.456T>G	NP_001186911.1:p.Val152=
NM_001199983.2:c.618T>G	NP_001186912.1:p.Val206=
NM_005006.7:c.789T>G MANE Select	NP_004997.4:p.Val263=
NM_001199984.2:c.831T>G	NP_001186913.1:p.Val277=