Canonical Allele Identifier: CA350043690

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992658T>A (hg19) ; chr2:g.206127934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127934T>A , CM000664.2:g.206127934T>A	GRCh38
NC_000002.11:g.206992658T>A , CM000664.1:g.206992658T>A	GRCh37
NC_000002.10:g.206700903T>A	NCBI36
NG_009248.1:g.36530A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1747A>T MANE Select	ENSP00000233190.5:p.Ile583Phe
ENST00000233190.10:c.1747A>T	ENSP00000233190.5:p.Ile583Phe
ENST00000423725.5:c.1576A>T	ENSP00000397760.1:p.Ile526Phe
ENST00000432169.5:c.1414A>T	ENSP00000409689.1:p.Ile472Phe
ENST00000440274.5:c.1639A>T	ENSP00000409766.1:p.Ile547Phe
ENST00000449699.5:c.1747A>T	ENSP00000399912.1:p.Ile583Phe
ENST00000455934.6:c.1789A>T	ENSP00000392709.2:p.Ile597Phe
ENST00000457011.5:c.1399A>T	ENSP00000400976.1:p.Ile467Phe
ENST00000498520.1:n.219A>T
NM_001199981.1:c.1639A>T	NP_001186910.1:p.Ile547Phe
NM_001199982.1:c.1414A>T	NP_001186911.1:p.Ile472Phe
NM_001199983.1:c.1576A>T	NP_001186912.1:p.Ile526Phe
NM_001199984.1:c.1789A>T	NP_001186913.1:p.Ile597Phe
NM_005006.6:c.1747A>T	NP_004997.4:p.Ile583Phe
XM_017004188.2:c.988A>T	XP_016859677.1:p.Ile330Phe
NM_001199981.2:c.1639A>T	NP_001186910.1:p.Ile547Phe
NM_001199982.2:c.1414A>T	NP_001186911.1:p.Ile472Phe
NM_001199983.2:c.1576A>T	NP_001186912.1:p.Ile526Phe
NM_005006.7:c.1747A>T MANE Select	NP_004997.4:p.Ile583Phe
NM_001199984.2:c.1789A>T	NP_001186913.1:p.Ile597Phe