Canonical Allele Identifier: CA63662493

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1801318
• MyVariant Identifiers: chr2:g.207006676T>A (hg19) ; chr2:g.206141952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206141952T>A , CM000664.2:g.206141952T>A	GRCh38
NC_000002.11:g.207006676T>A , CM000664.1:g.207006676T>A	GRCh37
NC_000002.10:g.206714921T>A	NCBI36
NG_009248.1:g.22512A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.1251A>T MANE Select	ENSP00000233190.5:p.Arg417Ser
ENST00000233190.10:c.1251A>T	ENSP00000233190.5:p.Arg417Ser
ENST00000423725.5:c.1080A>T	ENSP00000397760.1:p.Arg360Ser
ENST00000432169.5:c.918A>T	ENSP00000409689.1:p.Arg306Ser
ENST00000440274.5:c.1143A>T	ENSP00000409766.1:p.Arg381Ser
ENST00000449699.5:c.1251A>T	ENSP00000399912.1:p.Arg417Ser
ENST00000455934.6:c.1293A>T	ENSP00000392709.2:p.Arg431Ser
ENST00000457011.5:c.903A>T	ENSP00000400976.1:p.Arg301Ser
NM_001199981.1:c.1143A>T	NP_001186910.1:p.Arg381Ser
NM_001199982.1:c.918A>T	NP_001186911.1:p.Arg306Ser
NM_001199983.1:c.1080A>T	NP_001186912.1:p.Arg360Ser
NM_001199984.1:c.1293A>T	NP_001186913.1:p.Arg431Ser
NM_005006.6:c.1251A>T	NP_004997.4:p.Arg417Ser
XM_017004188.2:c.492A>T	XP_016859677.1:p.Arg164Ser
NM_001199981.2:c.1143A>T	NP_001186910.1:p.Arg381Ser
NM_001199982.2:c.918A>T	NP_001186911.1:p.Arg306Ser
NM_001199983.2:c.1080A>T	NP_001186912.1:p.Arg360Ser
NM_005006.7:c.1251A>T MANE Select	NP_004997.4:p.Arg417Ser
NM_001199984.2:c.1293A>T	NP_001186913.1:p.Arg431Ser