Canonical Allele Identifier: CA350043325

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992605C>A (hg19) ; chr2:g.206127881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127881C>A , CM000664.2:g.206127881C>A	GRCh38
NC_000002.11:g.206992605C>A , CM000664.1:g.206992605C>A	GRCh37
NC_000002.10:g.206700850C>A	NCBI36
NG_009248.1:g.36583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1800G>T MANE Select	ENSP00000233190.5:p.Glu600Asp
ENST00000233190.10:c.1800G>T	ENSP00000233190.5:p.Glu600Asp
ENST00000423725.5:c.1629G>T	ENSP00000397760.1:p.Glu543Asp
ENST00000432169.5:c.1467G>T	ENSP00000409689.1:p.Glu489Asp
ENST00000440274.5:c.1692G>T	ENSP00000409766.1:p.Glu564Asp
ENST00000449699.5:c.1800G>T	ENSP00000399912.1:p.Glu600Asp
ENST00000455934.6:c.1842G>T	ENSP00000392709.2:p.Glu614Asp
ENST00000457011.5:c.1452G>T	ENSP00000400976.1:p.Glu484Asp
ENST00000498520.1:n.272G>T
NM_001199981.1:c.1692G>T	NP_001186910.1:p.Glu564Asp
NM_001199982.1:c.1467G>T	NP_001186911.1:p.Glu489Asp
NM_001199983.1:c.1629G>T	NP_001186912.1:p.Glu543Asp
NM_001199984.1:c.1842G>T	NP_001186913.1:p.Glu614Asp
NM_005006.6:c.1800G>T	NP_004997.4:p.Glu600Asp
XM_017004188.2:c.1041G>T	XP_016859677.1:p.Glu347Asp
NM_001199981.2:c.1692G>T	NP_001186910.1:p.Glu564Asp
NM_001199982.2:c.1467G>T	NP_001186911.1:p.Glu489Asp
NM_001199983.2:c.1629G>T	NP_001186912.1:p.Glu543Asp
NM_005006.7:c.1800G>T MANE Select	NP_004997.4:p.Glu600Asp
NM_001199984.2:c.1842G>T	NP_001186913.1:p.Glu614Asp