Canonical Allele Identifier: CA350057751

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009739G>T (hg19) ; chr2:g.206145015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145015G>T , CM000664.2:g.206145015G>T	GRCh38
NC_000002.11:g.207009739G>T , CM000664.1:g.207009739G>T	GRCh37
NC_000002.10:g.206717984G>T	NCBI36
NG_009248.1:g.19449C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.749C>A MANE Select	ENSP00000233190.5:p.Ser250Tyr
ENST00000233190.10:c.749C>A	ENSP00000233190.5:p.Ser250Tyr
ENST00000423725.5:c.578C>A	ENSP00000397760.1:p.Ser193Tyr
ENST00000432169.5:c.416C>A	ENSP00000409689.1:p.Ser139Tyr
ENST00000440274.5:c.641C>A	ENSP00000409766.1:p.Ser214Tyr
ENST00000449699.5:c.749C>A	ENSP00000399912.1:p.Ser250Tyr
ENST00000455934.6:c.791C>A	ENSP00000392709.2:p.Ser264Tyr
ENST00000457011.5:c.401C>A	ENSP00000400976.1:p.Ser134Tyr
NM_001199981.1:c.641C>A	NP_001186910.1:p.Ser214Tyr
NM_001199982.1:c.416C>A	NP_001186911.1:p.Ser139Tyr
NM_001199983.1:c.578C>A	NP_001186912.1:p.Ser193Tyr
NM_001199984.1:c.791C>A	NP_001186913.1:p.Ser264Tyr
NM_005006.6:c.749C>A	NP_004997.4:p.Ser250Tyr
XM_017004188.2:c.-11C>A	XP_016859677.1:n.-11C>A
NM_001199981.2:c.641C>A	NP_001186910.1:p.Ser214Tyr
NM_001199982.2:c.416C>A	NP_001186911.1:p.Ser139Tyr
NM_001199983.2:c.578C>A	NP_001186912.1:p.Ser193Tyr
NM_005006.7:c.749C>A MANE Select	NP_004997.4:p.Ser250Tyr
NM_001199984.2:c.791C>A	NP_001186913.1:p.Ser264Tyr