Canonical Allele Identifier: CA2070652

Gene: NDUFS1

Linked Data

• dbSNP Id: rs754708381
• ExAC: 2:207009676 A / G
• gnomAD v2: 2-207009676-A-G
• gnomAD v4: 2-206144952-A-G
• MyVariant Identifiers: chr2:g.207009676A>G (hg19) ; chr2:g.206144952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144952A>G , CM000664.2:g.206144952A>G	GRCh38
NC_000002.11:g.207009676A>G , CM000664.1:g.207009676A>G	GRCh37
NC_000002.10:g.206717921A>G	NCBI36
NG_009248.1:g.19512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.812T>C MANE Select	ENSP00000233190.5:p.Met271Thr
ENST00000233190.10:c.812T>C	ENSP00000233190.5:p.Met271Thr
ENST00000423725.5:c.641T>C	ENSP00000397760.1:p.Met214Thr
ENST00000432169.5:c.479T>C	ENSP00000409689.1:p.Met160Thr
ENST00000440274.5:c.704T>C	ENSP00000409766.1:p.Met235Thr
ENST00000449699.5:c.812T>C	ENSP00000399912.1:p.Met271Thr
ENST00000455934.6:c.854T>C	ENSP00000392709.2:p.Met285Thr
ENST00000457011.5:c.464T>C	ENSP00000400976.1:p.Met155Thr
NM_001199981.1:c.704T>C	NP_001186910.1:p.Met235Thr
NM_001199982.1:c.479T>C	NP_001186911.1:p.Met160Thr
NM_001199983.1:c.641T>C	NP_001186912.1:p.Met214Thr
NM_001199984.1:c.854T>C	NP_001186913.1:p.Met285Thr
NM_005006.6:c.812T>C	NP_004997.4:p.Met271Thr
XM_017004188.2:c.53T>C	XP_016859677.1:p.Met18Thr
NM_001199981.2:c.704T>C	NP_001186910.1:p.Met235Thr
NM_001199982.2:c.479T>C	NP_001186911.1:p.Met160Thr
NM_001199983.2:c.641T>C	NP_001186912.1:p.Met214Thr
NM_005006.7:c.812T>C MANE Select	NP_004997.4:p.Met271Thr
NM_001199984.2:c.854T>C	NP_001186913.1:p.Met285Thr