Canonical Allele Identifier: CA350057623

Gene: NDUFS1

Linked Data

• dbSNP Id: rs2105971246
• MyVariant Identifiers: chr2:g.207009724T>C (hg19) ; chr2:g.206145000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145000T>C , CM000664.2:g.206145000T>C	GRCh38
NC_000002.11:g.207009724T>C , CM000664.1:g.207009724T>C	GRCh37
NC_000002.10:g.206717969T>C	NCBI36
NG_009248.1:g.19464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.764A>G MANE Select	ENSP00000233190.5:p.Asp255Gly
ENST00000233190.10:c.764A>G	ENSP00000233190.5:p.Asp255Gly
ENST00000423725.5:c.593A>G	ENSP00000397760.1:p.Asp198Gly
ENST00000432169.5:c.431A>G	ENSP00000409689.1:p.Asp144Gly
ENST00000440274.5:c.656A>G	ENSP00000409766.1:p.Asp219Gly
ENST00000449699.5:c.764A>G	ENSP00000399912.1:p.Asp255Gly
ENST00000455934.6:c.806A>G	ENSP00000392709.2:p.Asp269Gly
ENST00000457011.5:c.416A>G	ENSP00000400976.1:p.Asp139Gly
NM_001199981.1:c.656A>G	NP_001186910.1:p.Asp219Gly
NM_001199982.1:c.431A>G	NP_001186911.1:p.Asp144Gly
NM_001199983.1:c.593A>G	NP_001186912.1:p.Asp198Gly
NM_001199984.1:c.806A>G	NP_001186913.1:p.Asp269Gly
NM_005006.6:c.764A>G	NP_004997.4:p.Asp255Gly
XM_017004188.2:c.5A>G	XP_016859677.1:p.Asp2Gly
NM_001199981.2:c.656A>G	NP_001186910.1:p.Asp219Gly
NM_001199982.2:c.431A>G	NP_001186911.1:p.Asp144Gly
NM_001199983.2:c.593A>G	NP_001186912.1:p.Asp198Gly
NM_005006.7:c.764A>G MANE Select	NP_004997.4:p.Asp255Gly
NM_001199984.2:c.806A>G	NP_001186913.1:p.Asp269Gly