Canonical Allele Identifier: CA350056871

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009623T>C (hg19) ; chr2:g.206144899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144899T>C , CM000664.2:g.206144899T>C	GRCh38
NC_000002.11:g.207009623T>C , CM000664.1:g.207009623T>C	GRCh37
NC_000002.10:g.206717868T>C	NCBI36
NG_009248.1:g.19565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.865A>G MANE Select	ENSP00000233190.5:p.Lys289Glu
ENST00000233190.10:c.865A>G	ENSP00000233190.5:p.Lys289Glu
ENST00000423725.5:c.694A>G	ENSP00000397760.1:p.Lys232Glu
ENST00000432169.5:c.532A>G	ENSP00000409689.1:p.Lys178Glu
ENST00000440274.5:c.757A>G	ENSP00000409766.1:p.Lys253Glu
ENST00000449699.5:c.865A>G	ENSP00000399912.1:p.Lys289Glu
ENST00000455934.6:c.907A>G	ENSP00000392709.2:p.Lys303Glu
ENST00000457011.5:c.517A>G	ENSP00000400976.1:p.Lys173Glu
NM_001199981.1:c.757A>G	NP_001186910.1:p.Lys253Glu
NM_001199982.1:c.532A>G	NP_001186911.1:p.Lys178Glu
NM_001199983.1:c.694A>G	NP_001186912.1:p.Lys232Glu
NM_001199984.1:c.907A>G	NP_001186913.1:p.Lys303Glu
NM_005006.6:c.865A>G	NP_004997.4:p.Lys289Glu
XM_017004188.2:c.106A>G	XP_016859677.1:p.Lys36Glu
NM_001199981.2:c.757A>G	NP_001186910.1:p.Lys253Glu
NM_001199982.2:c.532A>G	NP_001186911.1:p.Lys178Glu
NM_001199983.2:c.694A>G	NP_001186912.1:p.Lys232Glu
NM_005006.7:c.865A>G MANE Select	NP_004997.4:p.Lys289Glu
NM_001199984.2:c.907A>G	NP_001186913.1:p.Lys303Glu