Canonical Allele Identifier: CA2070604

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144029C>T , CM000664.2:g.206144029C>T	GRCh38
NC_000002.11:g.207008753C>T , CM000664.1:g.207008753C>T	GRCh37
NC_000002.10:g.206716998C>T	NCBI36
NG_009248.1:g.20435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.976G>A MANE Select	ENSP00000233190.5:p.Val326Ile
ENST00000233190.10:c.976G>A	ENSP00000233190.5:p.Val326Ile
ENST00000423725.5:c.805G>A	ENSP00000397760.1:p.Val269Ile
ENST00000432169.5:c.643G>A	ENSP00000409689.1:p.Val215Ile
ENST00000440274.5:c.868G>A	ENSP00000409766.1:p.Val290Ile
ENST00000449699.5:c.976G>A	ENSP00000399912.1:p.Val326Ile
ENST00000455934.6:c.1018G>A	ENSP00000392709.2:p.Val340Ile
ENST00000457011.5:c.628G>A	ENSP00000400976.1:p.Val210Ile
NM_001199981.1:c.868G>A	NP_001186910.1:p.Val290Ile
NM_001199982.1:c.643G>A	NP_001186911.1:p.Val215Ile
NM_001199983.1:c.805G>A	NP_001186912.1:p.Val269Ile
NM_001199984.1:c.1018G>A	NP_001186913.1:p.Val340Ile
NM_005006.6:c.976G>A	NP_004997.4:p.Val326Ile
XM_017004188.2:c.217G>A	XP_016859677.1:p.Val73Ile
NM_001199981.2:c.868G>A	NP_001186910.1:p.Val290Ile
NM_001199982.2:c.643G>A	NP_001186911.1:p.Val215Ile
NM_001199983.2:c.805G>A	NP_001186912.1:p.Val269Ile
NM_005006.7:c.976G>A MANE Select	NP_004997.4:p.Val326Ile
NM_001199984.2:c.1018G>A	NP_001186913.1:p.Val340Ile