Canonical Allele Identifier: CA430955125

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207013749T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206149025T>C , CM000664.2:g.206149025T>C	GRCh38
NC_000002.11:g.207013749T>C , CM000664.1:g.207013749T>C	GRCh37
NC_000002.10:g.206721994T>C	NCBI36
NG_009248.1:g.15439A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.333A>G MANE Select	ENSP00000233190.5:p.Lys111=
ENST00000233190.10:c.333A>G	ENSP00000233190.5:p.Lys111=
ENST00000423725.5:c.162A>G	ENSP00000397760.1:p.Lys54=
ENST00000432169.5:c.6-1191A>G	ENSP00000409689.1:n.6-1191A>G
ENST00000440274.5:c.225A>G	ENSP00000409766.1:p.Lys75=
ENST00000449699.5:c.333A>G	ENSP00000399912.1:p.Lys111=
ENST00000454195.1:c.333A>G	ENSP00000389413.1:p.Lys111=
ENST00000455934.6:c.375A>G	ENSP00000392709.2:p.Lys125=
ENST00000456284.5:c.*95A>G	ENSP00000395553.1:n.*95A>G
ENST00000457011.5:c.-10-1191A>G	ENSP00000400976.1:n.-10-1191A>G
NM_001199981.1:c.225A>G	NP_001186910.1:p.Lys75=
NM_001199982.1:c.6-1191A>G	NP_001186911.1:n.6-1191A>G
NM_001199983.1:c.162A>G	NP_001186912.1:p.Lys54=
NM_001199984.1:c.375A>G	NP_001186913.1:p.Lys125=
NM_005006.6:c.333A>G	NP_004997.4:p.Lys111=
XM_017004188.2:c.-458A>G	XP_016859677.1:n.-458A>G
NM_001199981.2:c.225A>G	NP_001186910.1:p.Lys75=
NM_001199982.2:c.6-1191A>G	NP_001186911.1:n.6-1191A>G
NM_001199983.2:c.162A>G	NP_001186912.1:p.Lys54=
NM_005006.7:c.333A>G MANE Select	NP_004997.4:p.Lys111=
NM_001199984.2:c.375A>G	NP_001186913.1:p.Lys125=