Canonical Allele Identifier: CA350043787

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992676C>A (hg19) ; chr2:g.206127952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127952C>A , CM000664.2:g.206127952C>A	GRCh38
NC_000002.11:g.206992676C>A , CM000664.1:g.206992676C>A	GRCh37
NC_000002.10:g.206700921C>A	NCBI36
NG_009248.1:g.36512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1729G>T MANE Select	ENSP00000233190.5:p.Ala577Ser
ENST00000233190.10:c.1729G>T	ENSP00000233190.5:p.Ala577Ser
ENST00000423725.5:c.1558G>T	ENSP00000397760.1:p.Ala520Ser
ENST00000432169.5:c.1396G>T	ENSP00000409689.1:p.Ala466Ser
ENST00000440274.5:c.1621G>T	ENSP00000409766.1:p.Ala541Ser
ENST00000449699.5:c.1729G>T	ENSP00000399912.1:p.Ala577Ser
ENST00000455934.6:c.1771G>T	ENSP00000392709.2:p.Ala591Ser
ENST00000457011.5:c.1381G>T	ENSP00000400976.1:p.Ala461Ser
ENST00000498520.1:n.201G>T
NM_001199981.1:c.1621G>T	NP_001186910.1:p.Ala541Ser
NM_001199982.1:c.1396G>T	NP_001186911.1:p.Ala466Ser
NM_001199983.1:c.1558G>T	NP_001186912.1:p.Ala520Ser
NM_001199984.1:c.1771G>T	NP_001186913.1:p.Ala591Ser
NM_005006.6:c.1729G>T	NP_004997.4:p.Ala577Ser
XM_017004188.2:c.970G>T	XP_016859677.1:p.Ala324Ser
NM_001199981.2:c.1621G>T	NP_001186910.1:p.Ala541Ser
NM_001199982.2:c.1396G>T	NP_001186911.1:p.Ala466Ser
NM_001199983.2:c.1558G>T	NP_001186912.1:p.Ala520Ser
NM_005006.7:c.1729G>T MANE Select	NP_004997.4:p.Ala577Ser
NM_001199984.2:c.1771G>T	NP_001186913.1:p.Ala591Ser