Canonical Allele Identifier: CA2070312

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206126760C>T , CM000664.2:g.206126760C>T	GRCh38
NC_000002.11:g.206991484C>T , CM000664.1:g.206991484C>T	GRCh37
NC_000002.10:g.206699729C>T	NCBI36
NG_009248.1:g.37704G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.1969G>A MANE Select	NP_004997.4:p.Asp657Asn
ENST00000233190.11:c.1969G>A MANE Select	ENSP00000233190.5:p.Asp657Asn
NM_001199981.1:c.1861G>A	NP_001186910.1:p.Asp621Asn
NM_001199981.2:c.1861G>A	NP_001186910.1:p.Asp621Asn
NM_001199982.1:c.1636G>A	NP_001186911.1:p.Asp546Asn
NM_001199982.2:c.1636G>A	NP_001186911.1:p.Asp546Asn
NM_001199983.1:c.1798G>A	NP_001186912.1:p.Asp600Asn
NM_001199983.2:c.1798G>A	NP_001186912.1:p.Asp600Asn
NM_001199984.1:c.2011G>A	NP_001186913.1:p.Asp671Asn
NM_001199984.2:c.2011G>A	NP_001186913.1:p.Asp671Asn
NM_005006.6:c.1969G>A	NP_004997.4:p.Asp657Asn
ENST00000233190.10:c.1969G>A	ENSP00000233190.5:p.Asp657Asn
ENST00000423725.5:c.1798G>A	ENSP00000397760.1:p.Asp600Asn
ENST00000432169.5:c.1636G>A	ENSP00000409689.1:p.Asp546Asn
ENST00000440274.5:c.1861G>A	ENSP00000409766.1:p.Asp621Asn
ENST00000449699.5:c.1969G>A	ENSP00000399912.1:p.Asp657Asn
ENST00000455934.6:c.2011G>A	ENSP00000392709.2:p.Asp671Asn
ENST00000457011.5:c.1621G>A	ENSP00000400976.1:p.Asp541Asn
XM_017004188.2:c.1210G>A	XP_016859677.1:p.Asp404Asn