Canonical Allele Identifier: CA350057103

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009648G>C (hg19) ; chr2:g.206144924G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144924G>C , CM000664.2:g.206144924G>C	GRCh38
NC_000002.11:g.207009648G>C , CM000664.1:g.207009648G>C	GRCh37
NC_000002.10:g.206717893G>C	NCBI36
NG_009248.1:g.19540C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.840C>G MANE Select	ENSP00000233190.5:p.Asp280Glu
ENST00000233190.10:c.840C>G	ENSP00000233190.5:p.Asp280Glu
ENST00000423725.5:c.669C>G	ENSP00000397760.1:p.Asp223Glu
ENST00000432169.5:c.507C>G	ENSP00000409689.1:p.Asp169Glu
ENST00000440274.5:c.732C>G	ENSP00000409766.1:p.Asp244Glu
ENST00000449699.5:c.840C>G	ENSP00000399912.1:p.Asp280Glu
ENST00000455934.6:c.882C>G	ENSP00000392709.2:p.Asp294Glu
ENST00000457011.5:c.492C>G	ENSP00000400976.1:p.Asp164Glu
NM_001199981.1:c.732C>G	NP_001186910.1:p.Asp244Glu
NM_001199982.1:c.507C>G	NP_001186911.1:p.Asp169Glu
NM_001199983.1:c.669C>G	NP_001186912.1:p.Asp223Glu
NM_001199984.1:c.882C>G	NP_001186913.1:p.Asp294Glu
NM_005006.6:c.840C>G	NP_004997.4:p.Asp280Glu
XM_017004188.2:c.81C>G	XP_016859677.1:p.Asp27Glu
NM_001199981.2:c.732C>G	NP_001186910.1:p.Asp244Glu
NM_001199982.2:c.507C>G	NP_001186911.1:p.Asp169Glu
NM_001199983.2:c.669C>G	NP_001186912.1:p.Asp223Glu
NM_005006.7:c.840C>G MANE Select	NP_004997.4:p.Asp280Glu
NM_001199984.2:c.882C>G	NP_001186913.1:p.Asp294Glu