Canonical Allele Identifier: CA430953234

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009705A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144981A>T , CM000664.2:g.206144981A>T	GRCh38
NC_000002.11:g.207009705A>T , CM000664.1:g.207009705A>T	GRCh37
NC_000002.10:g.206717950A>T	NCBI36
NG_009248.1:g.19483T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.783T>A MANE Select	ENSP00000233190.5:p.Ile261=
ENST00000233190.10:c.783T>A	ENSP00000233190.5:p.Ile261=
ENST00000423725.5:c.612T>A	ENSP00000397760.1:p.Ile204=
ENST00000432169.5:c.450T>A	ENSP00000409689.1:p.Ile150=
ENST00000440274.5:c.675T>A	ENSP00000409766.1:p.Ile225=
ENST00000449699.5:c.783T>A	ENSP00000399912.1:p.Ile261=
ENST00000455934.6:c.825T>A	ENSP00000392709.2:p.Ile275=
ENST00000457011.5:c.435T>A	ENSP00000400976.1:p.Ile145=
NM_001199981.1:c.675T>A	NP_001186910.1:p.Ile225=
NM_001199982.1:c.450T>A	NP_001186911.1:p.Ile150=
NM_001199983.1:c.612T>A	NP_001186912.1:p.Ile204=
NM_001199984.1:c.825T>A	NP_001186913.1:p.Ile275=
NM_005006.6:c.783T>A	NP_004997.4:p.Ile261=
XM_017004188.2:c.24T>A	XP_016859677.1:p.Ile8=
NM_001199981.2:c.675T>A	NP_001186910.1:p.Ile225=
NM_001199982.2:c.450T>A	NP_001186911.1:p.Ile150=
NM_001199983.2:c.612T>A	NP_001186912.1:p.Ile204=
NM_005006.7:c.783T>A MANE Select	NP_004997.4:p.Ile261=
NM_001199984.2:c.825T>A	NP_001186913.1:p.Ile275=