Canonical Allele Identifier: CA350057001

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009638C>A (hg19) ; chr2:g.206144914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144914C>A , CM000664.2:g.206144914C>A	GRCh38
NC_000002.11:g.207009638C>A , CM000664.1:g.207009638C>A	GRCh37
NC_000002.10:g.206717883C>A	NCBI36
NG_009248.1:g.19550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.850G>T MANE Select	ENSP00000233190.5:p.Glu284Ter
ENST00000233190.10:c.850G>T	ENSP00000233190.5:p.Glu284Ter
ENST00000423725.5:c.679G>T	ENSP00000397760.1:p.Glu227Ter
ENST00000432169.5:c.517G>T	ENSP00000409689.1:p.Glu173Ter
ENST00000440274.5:c.742G>T	ENSP00000409766.1:p.Glu248Ter
ENST00000449699.5:c.850G>T	ENSP00000399912.1:p.Glu284Ter
ENST00000455934.6:c.892G>T	ENSP00000392709.2:p.Glu298Ter
ENST00000457011.5:c.502G>T	ENSP00000400976.1:p.Glu168Ter
NM_001199981.1:c.742G>T	NP_001186910.1:p.Glu248Ter
NM_001199982.1:c.517G>T	NP_001186911.1:p.Glu173Ter
NM_001199983.1:c.679G>T	NP_001186912.1:p.Glu227Ter
NM_001199984.1:c.892G>T	NP_001186913.1:p.Glu298Ter
NM_005006.6:c.850G>T	NP_004997.4:p.Glu284Ter
XM_017004188.2:c.91G>T	XP_016859677.1:p.Glu31Ter
NM_001199981.2:c.742G>T	NP_001186910.1:p.Glu248Ter
NM_001199982.2:c.517G>T	NP_001186911.1:p.Glu173Ter
NM_001199983.2:c.679G>T	NP_001186912.1:p.Glu227Ter
NM_005006.7:c.850G>T MANE Select	NP_004997.4:p.Glu284Ter
NM_001199984.2:c.892G>T	NP_001186913.1:p.Glu298Ter