Canonical Allele Identifier: CA350057520

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144983-T-G
• MyVariant Identifiers: chr2:g.207009707T>G (hg19) ; chr2:g.206144983T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144983T>G , CM000664.2:g.206144983T>G	GRCh38
NC_000002.11:g.207009707T>G , CM000664.1:g.207009707T>G	GRCh37
NC_000002.10:g.206717952T>G	NCBI36
NG_009248.1:g.19481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.781A>C MANE Select	ENSP00000233190.5:p.Ile261Leu
ENST00000233190.10:c.781A>C	ENSP00000233190.5:p.Ile261Leu
ENST00000423725.5:c.610A>C	ENSP00000397760.1:p.Ile204Leu
ENST00000432169.5:c.448A>C	ENSP00000409689.1:p.Ile150Leu
ENST00000440274.5:c.673A>C	ENSP00000409766.1:p.Ile225Leu
ENST00000449699.5:c.781A>C	ENSP00000399912.1:p.Ile261Leu
ENST00000455934.6:c.823A>C	ENSP00000392709.2:p.Ile275Leu
ENST00000457011.5:c.433A>C	ENSP00000400976.1:p.Ile145Leu
NM_001199981.1:c.673A>C	NP_001186910.1:p.Ile225Leu
NM_001199982.1:c.448A>C	NP_001186911.1:p.Ile150Leu
NM_001199983.1:c.610A>C	NP_001186912.1:p.Ile204Leu
NM_001199984.1:c.823A>C	NP_001186913.1:p.Ile275Leu
NM_005006.6:c.781A>C	NP_004997.4:p.Ile261Leu
XM_017004188.2:c.22A>C	XP_016859677.1:p.Ile8Leu
NM_001199981.2:c.673A>C	NP_001186910.1:p.Ile225Leu
NM_001199982.2:c.448A>C	NP_001186911.1:p.Ile150Leu
NM_001199983.2:c.610A>C	NP_001186912.1:p.Ile204Leu
NM_005006.7:c.781A>C MANE Select	NP_004997.4:p.Ile261Leu
NM_001199984.2:c.823A>C	NP_001186913.1:p.Ile275Leu