Canonical Allele Identifier: CA2070658

Gene: NDUFS1

Linked Data

• dbSNP Id: rs757845380
• ExAC: 2:207009722 C / T
• gnomAD v2: 2-207009722-C-T
• gnomAD v4: 2-206144998-C-T
• MyVariant Identifiers: chr2:g.207009722C>T (hg19) ; chr2:g.206144998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144998C>T , CM000664.2:g.206144998C>T	GRCh38
NC_000002.11:g.207009722C>T , CM000664.1:g.207009722C>T	GRCh37
NC_000002.10:g.206717967C>T	NCBI36
NG_009248.1:g.19466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.766G>A MANE Select	ENSP00000233190.5:p.Ala256Thr
ENST00000233190.10:c.766G>A	ENSP00000233190.5:p.Ala256Thr
ENST00000423725.5:c.595G>A	ENSP00000397760.1:p.Ala199Thr
ENST00000432169.5:c.433G>A	ENSP00000409689.1:p.Ala145Thr
ENST00000440274.5:c.658G>A	ENSP00000409766.1:p.Ala220Thr
ENST00000449699.5:c.766G>A	ENSP00000399912.1:p.Ala256Thr
ENST00000455934.6:c.808G>A	ENSP00000392709.2:p.Ala270Thr
ENST00000457011.5:c.418G>A	ENSP00000400976.1:p.Ala140Thr
NM_001199981.1:c.658G>A	NP_001186910.1:p.Ala220Thr
NM_001199982.1:c.433G>A	NP_001186911.1:p.Ala145Thr
NM_001199983.1:c.595G>A	NP_001186912.1:p.Ala199Thr
NM_001199984.1:c.808G>A	NP_001186913.1:p.Ala270Thr
NM_005006.6:c.766G>A	NP_004997.4:p.Ala256Thr
XM_017004188.2:c.7G>A	XP_016859677.1:p.Ala3Thr
NM_001199981.2:c.658G>A	NP_001186910.1:p.Ala220Thr
NM_001199982.2:c.433G>A	NP_001186911.1:p.Ala145Thr
NM_001199983.2:c.595G>A	NP_001186912.1:p.Ala199Thr
NM_005006.7:c.766G>A MANE Select	NP_004997.4:p.Ala256Thr
NM_001199984.2:c.808G>A	NP_001186913.1:p.Ala270Thr