Canonical Allele Identifier: CA350057710

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1239575228
• gnomAD v4: 2-206145010-C-A
• MyVariant Identifiers: chr2:g.207009734C>A (hg19) ; chr2:g.206145010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145010C>A , CM000664.2:g.206145010C>A	GRCh38
NC_000002.11:g.207009734C>A , CM000664.1:g.207009734C>A	GRCh37
NC_000002.10:g.206717979C>A	NCBI36
NG_009248.1:g.19454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.754G>T MANE Select	ENSP00000233190.5:p.Asp252Tyr
ENST00000233190.10:c.754G>T	ENSP00000233190.5:p.Asp252Tyr
ENST00000423725.5:c.583G>T	ENSP00000397760.1:p.Asp195Tyr
ENST00000432169.5:c.421G>T	ENSP00000409689.1:p.Asp141Tyr
ENST00000440274.5:c.646G>T	ENSP00000409766.1:p.Asp216Tyr
ENST00000449699.5:c.754G>T	ENSP00000399912.1:p.Asp252Tyr
ENST00000455934.6:c.796G>T	ENSP00000392709.2:p.Asp266Tyr
ENST00000457011.5:c.406G>T	ENSP00000400976.1:p.Asp136Tyr
NM_001199981.1:c.646G>T	NP_001186910.1:p.Asp216Tyr
NM_001199982.1:c.421G>T	NP_001186911.1:p.Asp141Tyr
NM_001199983.1:c.583G>T	NP_001186912.1:p.Asp195Tyr
NM_001199984.1:c.796G>T	NP_001186913.1:p.Asp266Tyr
NM_005006.6:c.754G>T	NP_004997.4:p.Asp252Tyr
XM_017004188.2:c.-6G>T	XP_016859677.1:n.-6G>T
NM_001199981.2:c.646G>T	NP_001186910.1:p.Asp216Tyr
NM_001199982.2:c.421G>T	NP_001186911.1:p.Asp141Tyr
NM_001199983.2:c.583G>T	NP_001186912.1:p.Asp195Tyr
NM_005006.7:c.754G>T MANE Select	NP_004997.4:p.Asp252Tyr
NM_001199984.2:c.796G>T	NP_001186913.1:p.Asp266Tyr