Canonical Allele Identifier: CA350043495

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992630T>C (hg19) ; chr2:g.206127906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127906T>C , CM000664.2:g.206127906T>C	GRCh38
NC_000002.11:g.206992630T>C , CM000664.1:g.206992630T>C	GRCh37
NC_000002.10:g.206700875T>C	NCBI36
NG_009248.1:g.36558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1775A>G MANE Select	ENSP00000233190.5:p.Lys592Arg
ENST00000233190.10:c.1775A>G	ENSP00000233190.5:p.Lys592Arg
ENST00000423725.5:c.1604A>G	ENSP00000397760.1:p.Lys535Arg
ENST00000432169.5:c.1442A>G	ENSP00000409689.1:p.Lys481Arg
ENST00000440274.5:c.1667A>G	ENSP00000409766.1:p.Lys556Arg
ENST00000449699.5:c.1775A>G	ENSP00000399912.1:p.Lys592Arg
ENST00000455934.6:c.1817A>G	ENSP00000392709.2:p.Lys606Arg
ENST00000457011.5:c.1427A>G	ENSP00000400976.1:p.Lys476Arg
ENST00000498520.1:n.247A>G
NM_001199981.1:c.1667A>G	NP_001186910.1:p.Lys556Arg
NM_001199982.1:c.1442A>G	NP_001186911.1:p.Lys481Arg
NM_001199983.1:c.1604A>G	NP_001186912.1:p.Lys535Arg
NM_001199984.1:c.1817A>G	NP_001186913.1:p.Lys606Arg
NM_005006.6:c.1775A>G	NP_004997.4:p.Lys592Arg
XM_017004188.2:c.1016A>G	XP_016859677.1:p.Lys339Arg
NM_001199981.2:c.1667A>G	NP_001186910.1:p.Lys556Arg
NM_001199982.2:c.1442A>G	NP_001186911.1:p.Lys481Arg
NM_001199983.2:c.1604A>G	NP_001186912.1:p.Lys535Arg
NM_005006.7:c.1775A>G MANE Select	NP_004997.4:p.Lys592Arg
NM_001199984.2:c.1817A>G	NP_001186913.1:p.Lys606Arg