Canonical Allele Identifier: CA350043390

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992613T>A (hg19) ; chr2:g.206127889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127889T>A , CM000664.2:g.206127889T>A	GRCh38
NC_000002.11:g.206992613T>A , CM000664.1:g.206992613T>A	GRCh37
NC_000002.10:g.206700858T>A	NCBI36
NG_009248.1:g.36575A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1792A>T MANE Select	ENSP00000233190.5:p.Asn598Tyr
ENST00000233190.10:c.1792A>T	ENSP00000233190.5:p.Asn598Tyr
ENST00000423725.5:c.1621A>T	ENSP00000397760.1:p.Asn541Tyr
ENST00000432169.5:c.1459A>T	ENSP00000409689.1:p.Asn487Tyr
ENST00000440274.5:c.1684A>T	ENSP00000409766.1:p.Asn562Tyr
ENST00000449699.5:c.1792A>T	ENSP00000399912.1:p.Asn598Tyr
ENST00000455934.6:c.1834A>T	ENSP00000392709.2:p.Asn612Tyr
ENST00000457011.5:c.1444A>T	ENSP00000400976.1:p.Asn482Tyr
ENST00000498520.1:n.264A>T
NM_001199981.1:c.1684A>T	NP_001186910.1:p.Asn562Tyr
NM_001199982.1:c.1459A>T	NP_001186911.1:p.Asn487Tyr
NM_001199983.1:c.1621A>T	NP_001186912.1:p.Asn541Tyr
NM_001199984.1:c.1834A>T	NP_001186913.1:p.Asn612Tyr
NM_005006.6:c.1792A>T	NP_004997.4:p.Asn598Tyr
XM_017004188.2:c.1033A>T	XP_016859677.1:p.Asn345Tyr
NM_001199981.2:c.1684A>T	NP_001186910.1:p.Asn562Tyr
NM_001199982.2:c.1459A>T	NP_001186911.1:p.Asn487Tyr
NM_001199983.2:c.1621A>T	NP_001186912.1:p.Asn541Tyr
NM_005006.7:c.1792A>T MANE Select	NP_004997.4:p.Asn598Tyr
NM_001199984.2:c.1834A>T	NP_001186913.1:p.Asn612Tyr