Canonical Allele Identifier: CA2070515

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206141947C>T , CM000664.2:g.206141947C>T	GRCh38
NC_000002.11:g.207006671C>T , CM000664.1:g.207006671C>T	GRCh37
NC_000002.10:g.206714916C>T	NCBI36
NG_009248.1:g.22517G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.1256G>A MANE Select	NP_004997.4:p.Arg419Gln
ENST00000233190.11:c.1256G>A MANE Select	ENSP00000233190.5:p.Arg419Gln
NM_001199981.1:c.1148G>A	NP_001186910.1:p.Arg383Gln
NM_001199981.2:c.1148G>A	NP_001186910.1:p.Arg383Gln
NM_001199982.1:c.923G>A	NP_001186911.1:p.Arg308Gln
NM_001199982.2:c.923G>A	NP_001186911.1:p.Arg308Gln
NM_001199983.1:c.1085G>A	NP_001186912.1:p.Arg362Gln
NM_001199983.2:c.1085G>A	NP_001186912.1:p.Arg362Gln
NM_001199984.1:c.1298G>A	NP_001186913.1:p.Arg433Gln
NM_001199984.2:c.1298G>A	NP_001186913.1:p.Arg433Gln
NM_005006.6:c.1256G>A	NP_004997.4:p.Arg419Gln
ENST00000233190.10:c.1256G>A	ENSP00000233190.5:p.Arg419Gln
ENST00000423725.5:c.1085G>A	ENSP00000397760.1:p.Arg362Gln
ENST00000432169.5:c.923G>A	ENSP00000409689.1:p.Arg308Gln
ENST00000440274.5:c.1148G>A	ENSP00000409766.1:p.Arg383Gln
ENST00000449699.5:c.1256G>A	ENSP00000399912.1:p.Arg419Gln
ENST00000455934.6:c.1298G>A	ENSP00000392709.2:p.Arg433Gln
ENST00000457011.5:c.908G>A	ENSP00000400976.1:p.Arg303Gln
XM_017004188.2:c.497G>A	XP_016859677.1:p.Arg166Gln