Canonical Allele Identifier: CA350042937

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992550C>A (hg19) ; chr2:g.206127826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127826C>A , CM000664.2:g.206127826C>A	GRCh38
NC_000002.11:g.206992550C>A , CM000664.1:g.206992550C>A	GRCh37
NC_000002.10:g.206700795C>A	NCBI36
NG_009248.1:g.36638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1855G>T MANE Select	ENSP00000233190.5:p.Asp619Tyr
ENST00000233190.10:c.1855G>T	ENSP00000233190.5:p.Asp619Tyr
ENST00000423725.5:c.1684G>T	ENSP00000397760.1:p.Asp562Tyr
ENST00000432169.5:c.1522G>T	ENSP00000409689.1:p.Asp508Tyr
ENST00000440274.5:c.1747G>T	ENSP00000409766.1:p.Asp583Tyr
ENST00000449699.5:c.1855G>T	ENSP00000399912.1:p.Asp619Tyr
ENST00000455934.6:c.1897G>T	ENSP00000392709.2:p.Asp633Tyr
ENST00000457011.5:c.1507G>T	ENSP00000400976.1:p.Asp503Tyr
ENST00000498520.1:n.327G>T
NM_001199981.1:c.1747G>T	NP_001186910.1:p.Asp583Tyr
NM_001199982.1:c.1522G>T	NP_001186911.1:p.Asp508Tyr
NM_001199983.1:c.1684G>T	NP_001186912.1:p.Asp562Tyr
NM_001199984.1:c.1897G>T	NP_001186913.1:p.Asp633Tyr
NM_005006.6:c.1855G>T	NP_004997.4:p.Asp619Tyr
XM_017004188.2:c.1096G>T	XP_016859677.1:p.Asp366Tyr
NM_001199981.2:c.1747G>T	NP_001186910.1:p.Asp583Tyr
NM_001199982.2:c.1522G>T	NP_001186911.1:p.Asp508Tyr
NM_001199983.2:c.1684G>T	NP_001186912.1:p.Asp562Tyr
NM_005006.7:c.1855G>T MANE Select	NP_004997.4:p.Asp619Tyr
NM_001199984.2:c.1897G>T	NP_001186913.1:p.Asp633Tyr