Canonical Allele Identifier: CA430952435

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009630G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144906G>T , CM000664.2:g.206144906G>T	GRCh38
NC_000002.11:g.207009630G>T , CM000664.1:g.207009630G>T	GRCh37
NC_000002.10:g.206717875G>T	NCBI36
NG_009248.1:g.19558C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.858C>A MANE Select	ENSP00000233190.5:p.Ile286=
ENST00000233190.10:c.858C>A	ENSP00000233190.5:p.Ile286=
ENST00000423725.5:c.687C>A	ENSP00000397760.1:p.Ile229=
ENST00000432169.5:c.525C>A	ENSP00000409689.1:p.Ile175=
ENST00000440274.5:c.750C>A	ENSP00000409766.1:p.Ile250=
ENST00000449699.5:c.858C>A	ENSP00000399912.1:p.Ile286=
ENST00000455934.6:c.900C>A	ENSP00000392709.2:p.Ile300=
ENST00000457011.5:c.510C>A	ENSP00000400976.1:p.Ile170=
NM_001199981.1:c.750C>A	NP_001186910.1:p.Ile250=
NM_001199982.1:c.525C>A	NP_001186911.1:p.Ile175=
NM_001199983.1:c.687C>A	NP_001186912.1:p.Ile229=
NM_001199984.1:c.900C>A	NP_001186913.1:p.Ile300=
NM_005006.6:c.858C>A	NP_004997.4:p.Ile286=
XM_017004188.2:c.99C>A	XP_016859677.1:p.Ile33=
NM_001199981.2:c.750C>A	NP_001186910.1:p.Ile250=
NM_001199982.2:c.525C>A	NP_001186911.1:p.Ile175=
NM_001199983.2:c.687C>A	NP_001186912.1:p.Ile229=
NM_005006.7:c.858C>A MANE Select	NP_004997.4:p.Ile286=
NM_001199984.2:c.900C>A	NP_001186913.1:p.Ile300=