Canonical Allele Identifier: CA350057586

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144994-A-G
• MyVariant Identifiers: chr2:g.207009718A>G (hg19) ; chr2:g.206144994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144994A>G , CM000664.2:g.206144994A>G	GRCh38
NC_000002.11:g.207009718A>G , CM000664.1:g.207009718A>G	GRCh37
NC_000002.10:g.206717963A>G	NCBI36
NG_009248.1:g.19470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.770T>C MANE Select	ENSP00000233190.5:p.Val257Ala
ENST00000233190.10:c.770T>C	ENSP00000233190.5:p.Val257Ala
ENST00000423725.5:c.599T>C	ENSP00000397760.1:p.Val200Ala
ENST00000432169.5:c.437T>C	ENSP00000409689.1:p.Val146Ala
ENST00000440274.5:c.662T>C	ENSP00000409766.1:p.Val221Ala
ENST00000449699.5:c.770T>C	ENSP00000399912.1:p.Val257Ala
ENST00000455934.6:c.812T>C	ENSP00000392709.2:p.Val271Ala
ENST00000457011.5:c.422T>C	ENSP00000400976.1:p.Val141Ala
NM_001199981.1:c.662T>C	NP_001186910.1:p.Val221Ala
NM_001199982.1:c.437T>C	NP_001186911.1:p.Val146Ala
NM_001199983.1:c.599T>C	NP_001186912.1:p.Val200Ala
NM_001199984.1:c.812T>C	NP_001186913.1:p.Val271Ala
NM_005006.6:c.770T>C	NP_004997.4:p.Val257Ala
XM_017004188.2:c.11T>C	XP_016859677.1:p.Val4Ala
NM_001199981.2:c.662T>C	NP_001186910.1:p.Val221Ala
NM_001199982.2:c.437T>C	NP_001186911.1:p.Val146Ala
NM_001199983.2:c.599T>C	NP_001186912.1:p.Val200Ala
NM_005006.7:c.770T>C MANE Select	NP_004997.4:p.Val257Ala
NM_001199984.2:c.812T>C	NP_001186913.1:p.Val271Ala