Canonical Allele Identifier: CA350043354

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992609G>T (hg19) ; chr2:g.206127885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127885G>T , CM000664.2:g.206127885G>T	GRCh38
NC_000002.11:g.206992609G>T , CM000664.1:g.206992609G>T	GRCh37
NC_000002.10:g.206700854G>T	NCBI36
NG_009248.1:g.36579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1796C>A MANE Select	ENSP00000233190.5:p.Thr599Asn
ENST00000233190.10:c.1796C>A	ENSP00000233190.5:p.Thr599Asn
ENST00000423725.5:c.1625C>A	ENSP00000397760.1:p.Thr542Asn
ENST00000432169.5:c.1463C>A	ENSP00000409689.1:p.Thr488Asn
ENST00000440274.5:c.1688C>A	ENSP00000409766.1:p.Thr563Asn
ENST00000449699.5:c.1796C>A	ENSP00000399912.1:p.Thr599Asn
ENST00000455934.6:c.1838C>A	ENSP00000392709.2:p.Thr613Asn
ENST00000457011.5:c.1448C>A	ENSP00000400976.1:p.Thr483Asn
ENST00000498520.1:n.268C>A
NM_001199981.1:c.1688C>A	NP_001186910.1:p.Thr563Asn
NM_001199982.1:c.1463C>A	NP_001186911.1:p.Thr488Asn
NM_001199983.1:c.1625C>A	NP_001186912.1:p.Thr542Asn
NM_001199984.1:c.1838C>A	NP_001186913.1:p.Thr613Asn
NM_005006.6:c.1796C>A	NP_004997.4:p.Thr599Asn
XM_017004188.2:c.1037C>A	XP_016859677.1:p.Thr346Asn
NM_001199981.2:c.1688C>A	NP_001186910.1:p.Thr563Asn
NM_001199982.2:c.1463C>A	NP_001186911.1:p.Thr488Asn
NM_001199983.2:c.1625C>A	NP_001186912.1:p.Thr542Asn
NM_005006.7:c.1796C>A MANE Select	NP_004997.4:p.Thr599Asn
NM_001199984.2:c.1838C>A	NP_001186913.1:p.Thr613Asn