Canonical Allele Identifier: CA350043317

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691353762
• gnomAD v3: 2-206127880-C-T
• gnomAD v4: 2-206127880-C-T
• MyVariant Identifiers: chr2:g.206992604C>T (hg19) ; chr2:g.206127880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127880C>T , CM000664.2:g.206127880C>T	GRCh38
NC_000002.11:g.206992604C>T , CM000664.1:g.206992604C>T	GRCh37
NC_000002.10:g.206700849C>T	NCBI36
NG_009248.1:g.36584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1801G>A MANE Select	ENSP00000233190.5:p.Gly601Ser
ENST00000233190.10:c.1801G>A	ENSP00000233190.5:p.Gly601Ser
ENST00000423725.5:c.1630G>A	ENSP00000397760.1:p.Gly544Ser
ENST00000432169.5:c.1468G>A	ENSP00000409689.1:p.Gly490Ser
ENST00000440274.5:c.1693G>A	ENSP00000409766.1:p.Gly565Ser
ENST00000449699.5:c.1801G>A	ENSP00000399912.1:p.Gly601Ser
ENST00000455934.6:c.1843G>A	ENSP00000392709.2:p.Gly615Ser
ENST00000457011.5:c.1453G>A	ENSP00000400976.1:p.Gly485Ser
ENST00000498520.1:n.273G>A
NM_001199981.1:c.1693G>A	NP_001186910.1:p.Gly565Ser
NM_001199982.1:c.1468G>A	NP_001186911.1:p.Gly490Ser
NM_001199983.1:c.1630G>A	NP_001186912.1:p.Gly544Ser
NM_001199984.1:c.1843G>A	NP_001186913.1:p.Gly615Ser
NM_005006.6:c.1801G>A	NP_004997.4:p.Gly601Ser
XM_017004188.2:c.1042G>A	XP_016859677.1:p.Gly348Ser
NM_001199981.2:c.1693G>A	NP_001186910.1:p.Gly565Ser
NM_001199982.2:c.1468G>A	NP_001186911.1:p.Gly490Ser
NM_001199983.2:c.1630G>A	NP_001186912.1:p.Gly544Ser
NM_005006.7:c.1801G>A MANE Select	NP_004997.4:p.Gly601Ser
NM_001199984.2:c.1843G>A	NP_001186913.1:p.Gly615Ser