Canonical Allele Identifier: CA350057821

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1239466091
• MyVariant Identifiers: chr2:g.207009748T>G (hg19) ; chr2:g.206145024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145024T>G , CM000664.2:g.206145024T>G	GRCh38
NC_000002.11:g.207009748T>G , CM000664.1:g.207009748T>G	GRCh37
NC_000002.10:g.206717993T>G	NCBI36
NG_009248.1:g.19440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.740A>C MANE Select	ENSP00000233190.5:p.Lys247Thr
ENST00000233190.10:c.740A>C	ENSP00000233190.5:p.Lys247Thr
ENST00000423725.5:c.569A>C	ENSP00000397760.1:p.Lys190Thr
ENST00000432169.5:c.407A>C	ENSP00000409689.1:p.Lys136Thr
ENST00000440274.5:c.632A>C	ENSP00000409766.1:p.Lys211Thr
ENST00000449699.5:c.740A>C	ENSP00000399912.1:p.Lys247Thr
ENST00000455934.6:c.782A>C	ENSP00000392709.2:p.Lys261Thr
ENST00000457011.5:c.392A>C	ENSP00000400976.1:p.Lys131Thr
NM_001199981.1:c.632A>C	NP_001186910.1:p.Lys211Thr
NM_001199982.1:c.407A>C	NP_001186911.1:p.Lys136Thr
NM_001199983.1:c.569A>C	NP_001186912.1:p.Lys190Thr
NM_001199984.1:c.782A>C	NP_001186913.1:p.Lys261Thr
NM_005006.6:c.740A>C	NP_004997.4:p.Lys247Thr
XM_017004188.2:c.-20A>C	XP_016859677.1:n.-20A>C
NM_001199981.2:c.632A>C	NP_001186910.1:p.Lys211Thr
NM_001199982.2:c.407A>C	NP_001186911.1:p.Lys136Thr
NM_001199983.2:c.569A>C	NP_001186912.1:p.Lys190Thr
NM_005006.7:c.740A>C MANE Select	NP_004997.4:p.Lys247Thr
NM_001199984.2:c.782A>C	NP_001186913.1:p.Lys261Thr