Canonical Allele Identifier: CA350056289

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009622T>A (hg19) ; chr2:g.206144898T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144898T>A , CM000664.2:g.206144898T>A	GRCh38
NC_000002.11:g.207009622T>A , CM000664.1:g.207009622T>A	GRCh37
NC_000002.10:g.206717867T>A	NCBI36
NG_009248.1:g.19566A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.866A>T MANE Select	ENSP00000233190.5:p.Lys289Ile
ENST00000233190.10:c.866A>T	ENSP00000233190.5:p.Lys289Ile
ENST00000423725.5:c.695A>T	ENSP00000397760.1:p.Lys232Ile
ENST00000432169.5:c.533A>T	ENSP00000409689.1:p.Lys178Ile
ENST00000440274.5:c.758A>T	ENSP00000409766.1:p.Lys253Ile
ENST00000449699.5:c.866A>T	ENSP00000399912.1:p.Lys289Ile
ENST00000455934.6:c.908A>T	ENSP00000392709.2:p.Lys303Ile
ENST00000457011.5:c.518A>T	ENSP00000400976.1:p.Lys173Ile
NM_001199981.1:c.758A>T	NP_001186910.1:p.Lys253Ile
NM_001199982.1:c.533A>T	NP_001186911.1:p.Lys178Ile
NM_001199983.1:c.695A>T	NP_001186912.1:p.Lys232Ile
NM_001199984.1:c.908A>T	NP_001186913.1:p.Lys303Ile
NM_005006.6:c.866A>T	NP_004997.4:p.Lys289Ile
XM_017004188.2:c.107A>T	XP_016859677.1:p.Lys36Ile
NM_001199981.2:c.758A>T	NP_001186910.1:p.Lys253Ile
NM_001199982.2:c.533A>T	NP_001186911.1:p.Lys178Ile
NM_001199983.2:c.695A>T	NP_001186912.1:p.Lys232Ile
NM_005006.7:c.866A>T MANE Select	NP_004997.4:p.Lys289Ile
NM_001199984.2:c.908A>T	NP_001186913.1:p.Lys303Ile