Canonical Allele Identifier: CA2070307

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206126723T>C , CM000664.2:g.206126723T>C	GRCh38
NC_000002.11:g.206991447T>C , CM000664.1:g.206991447T>C	GRCh37
NC_000002.10:g.206699692T>C	NCBI36
NG_009248.1:g.37741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.2006A>G MANE Select	ENSP00000233190.5:p.Asn669Ser
ENST00000233190.10:c.2006A>G	ENSP00000233190.5:p.Asn669Ser
ENST00000423725.5:c.1835A>G	ENSP00000397760.1:p.Asn612Ser
ENST00000432169.5:c.1673A>G	ENSP00000409689.1:p.Asn558Ser
ENST00000440274.5:c.1898A>G	ENSP00000409766.1:p.Asn633Ser
ENST00000449699.5:c.2006A>G	ENSP00000399912.1:p.Asn669Ser
ENST00000455934.6:c.2048A>G	ENSP00000392709.2:p.Asn683Ser
ENST00000457011.5:c.1658A>G	ENSP00000400976.1:p.Asn553Ser
NM_001199981.1:c.1898A>G	NP_001186910.1:p.Asn633Ser
NM_001199982.1:c.1673A>G	NP_001186911.1:p.Asn558Ser
NM_001199983.1:c.1835A>G	NP_001186912.1:p.Asn612Ser
NM_001199984.1:c.2048A>G	NP_001186913.1:p.Asn683Ser
NM_005006.6:c.2006A>G	NP_004997.4:p.Asn669Ser
XM_017004188.2:c.1247A>G	XP_016859677.1:p.Asn416Ser
NM_001199981.2:c.1898A>G	NP_001186910.1:p.Asn633Ser
NM_001199982.2:c.1673A>G	NP_001186911.1:p.Asn558Ser
NM_001199983.2:c.1835A>G	NP_001186912.1:p.Asn612Ser
NM_005006.7:c.2006A>G MANE Select	NP_004997.4:p.Asn669Ser
NM_001199984.2:c.2048A>G	NP_001186913.1:p.Asn683Ser