Canonical Allele Identifier: CA350057508

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009705A>C (hg19) ; chr2:g.206144981A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144981A>C , CM000664.2:g.206144981A>C	GRCh38
NC_000002.11:g.207009705A>C , CM000664.1:g.207009705A>C	GRCh37
NC_000002.10:g.206717950A>C	NCBI36
NG_009248.1:g.19483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.783T>G MANE Select	ENSP00000233190.5:p.Ile261Met
ENST00000233190.10:c.783T>G	ENSP00000233190.5:p.Ile261Met
ENST00000423725.5:c.612T>G	ENSP00000397760.1:p.Ile204Met
ENST00000432169.5:c.450T>G	ENSP00000409689.1:p.Ile150Met
ENST00000440274.5:c.675T>G	ENSP00000409766.1:p.Ile225Met
ENST00000449699.5:c.783T>G	ENSP00000399912.1:p.Ile261Met
ENST00000455934.6:c.825T>G	ENSP00000392709.2:p.Ile275Met
ENST00000457011.5:c.435T>G	ENSP00000400976.1:p.Ile145Met
NM_001199981.1:c.675T>G	NP_001186910.1:p.Ile225Met
NM_001199982.1:c.450T>G	NP_001186911.1:p.Ile150Met
NM_001199983.1:c.612T>G	NP_001186912.1:p.Ile204Met
NM_001199984.1:c.825T>G	NP_001186913.1:p.Ile275Met
NM_005006.6:c.783T>G	NP_004997.4:p.Ile261Met
XM_017004188.2:c.24T>G	XP_016859677.1:p.Ile8Met
NM_001199981.2:c.675T>G	NP_001186910.1:p.Ile225Met
NM_001199982.2:c.450T>G	NP_001186911.1:p.Ile150Met
NM_001199983.2:c.612T>G	NP_001186912.1:p.Ile204Met
NM_005006.7:c.783T>G MANE Select	NP_004997.4:p.Ile261Met
NM_001199984.2:c.825T>G	NP_001186913.1:p.Ile275Met