Canonical Allele Identifier: CA350053333

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206142743T>C , CM000664.2:g.206142743T>C	GRCh38
NC_000002.11:g.207007467T>C , CM000664.1:g.207007467T>C	GRCh37
NC_000002.10:g.206715712T>C	NCBI36
NG_009248.1:g.21721A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1076A>G MANE Select	ENSP00000233190.5:p.Asn359Ser
ENST00000233190.10:c.1076A>G	ENSP00000233190.5:p.Asn359Ser
ENST00000423725.5:c.905A>G	ENSP00000397760.1:p.Asn302Ser
ENST00000432169.5:c.743A>G	ENSP00000409689.1:p.Asn248Ser
ENST00000440274.5:c.968A>G	ENSP00000409766.1:p.Asn323Ser
ENST00000449699.5:c.1076A>G	ENSP00000399912.1:p.Asn359Ser
ENST00000455934.6:c.1118A>G	ENSP00000392709.2:p.Asn373Ser
ENST00000457011.5:c.728A>G	ENSP00000400976.1:p.Asn243Ser
NM_001199981.1:c.968A>G	NP_001186910.1:p.Asn323Ser
NM_001199982.1:c.743A>G	NP_001186911.1:p.Asn248Ser
NM_001199983.1:c.905A>G	NP_001186912.1:p.Asn302Ser
NM_001199984.1:c.1118A>G	NP_001186913.1:p.Asn373Ser
NM_005006.6:c.1076A>G	NP_004997.4:p.Asn359Ser
XM_017004188.2:c.317A>G	XP_016859677.1:p.Asn106Ser
NM_001199981.2:c.968A>G	NP_001186910.1:p.Asn323Ser
NM_001199982.2:c.743A>G	NP_001186911.1:p.Asn248Ser
NM_001199983.2:c.905A>G	NP_001186912.1:p.Asn302Ser
NM_005006.7:c.1076A>G MANE Select	NP_004997.4:p.Asn359Ser
NM_001199984.2:c.1118A>G	NP_001186913.1:p.Asn373Ser