Canonical Allele Identifier: CA350057283

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009670A>T (hg19) ; chr2:g.206144946A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144946A>T , CM000664.2:g.206144946A>T	GRCh38
NC_000002.11:g.207009670A>T , CM000664.1:g.207009670A>T	GRCh37
NC_000002.10:g.206717915A>T	NCBI36
NG_009248.1:g.19518T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.818T>A MANE Select	ENSP00000233190.5:p.Ile273Asn
ENST00000233190.10:c.818T>A	ENSP00000233190.5:p.Ile273Asn
ENST00000423725.5:c.647T>A	ENSP00000397760.1:p.Ile216Asn
ENST00000432169.5:c.485T>A	ENSP00000409689.1:p.Ile162Asn
ENST00000440274.5:c.710T>A	ENSP00000409766.1:p.Ile237Asn
ENST00000449699.5:c.818T>A	ENSP00000399912.1:p.Ile273Asn
ENST00000455934.6:c.860T>A	ENSP00000392709.2:p.Ile287Asn
ENST00000457011.5:c.470T>A	ENSP00000400976.1:p.Ile157Asn
NM_001199981.1:c.710T>A	NP_001186910.1:p.Ile237Asn
NM_001199982.1:c.485T>A	NP_001186911.1:p.Ile162Asn
NM_001199983.1:c.647T>A	NP_001186912.1:p.Ile216Asn
NM_001199984.1:c.860T>A	NP_001186913.1:p.Ile287Asn
NM_005006.6:c.818T>A	NP_004997.4:p.Ile273Asn
XM_017004188.2:c.59T>A	XP_016859677.1:p.Ile20Asn
NM_001199981.2:c.710T>A	NP_001186910.1:p.Ile237Asn
NM_001199982.2:c.485T>A	NP_001186911.1:p.Ile162Asn
NM_001199983.2:c.647T>A	NP_001186912.1:p.Ile216Asn
NM_005006.7:c.818T>A MANE Select	NP_004997.4:p.Ile273Asn
NM_001199984.2:c.860T>A	NP_001186913.1:p.Ile287Asn