Canonical Allele Identifier: CA350057041

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1485032272
• gnomAD v2: 2-207009643-T-A
• gnomAD v4: 2-206144919-T-A
• MyVariant Identifiers: chr2:g.207009643T>A (hg19) ; chr2:g.206144919T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144919T>A , CM000664.2:g.206144919T>A	GRCh38
NC_000002.11:g.207009643T>A , CM000664.1:g.207009643T>A	GRCh37
NC_000002.10:g.206717888T>A	NCBI36
NG_009248.1:g.19545A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.845A>T MANE Select	ENSP00000233190.5:p.Asn282Ile
ENST00000233190.10:c.845A>T	ENSP00000233190.5:p.Asn282Ile
ENST00000423725.5:c.674A>T	ENSP00000397760.1:p.Asn225Ile
ENST00000432169.5:c.512A>T	ENSP00000409689.1:p.Asn171Ile
ENST00000440274.5:c.737A>T	ENSP00000409766.1:p.Asn246Ile
ENST00000449699.5:c.845A>T	ENSP00000399912.1:p.Asn282Ile
ENST00000455934.6:c.887A>T	ENSP00000392709.2:p.Asn296Ile
ENST00000457011.5:c.497A>T	ENSP00000400976.1:p.Asn166Ile
NM_001199981.1:c.737A>T	NP_001186910.1:p.Asn246Ile
NM_001199982.1:c.512A>T	NP_001186911.1:p.Asn171Ile
NM_001199983.1:c.674A>T	NP_001186912.1:p.Asn225Ile
NM_001199984.1:c.887A>T	NP_001186913.1:p.Asn296Ile
NM_005006.6:c.845A>T	NP_004997.4:p.Asn282Ile
XM_017004188.2:c.86A>T	XP_016859677.1:p.Asn29Ile
NM_001199981.2:c.737A>T	NP_001186910.1:p.Asn246Ile
NM_001199982.2:c.512A>T	NP_001186911.1:p.Asn171Ile
NM_001199983.2:c.674A>T	NP_001186912.1:p.Asn225Ile
NM_005006.7:c.845A>T MANE Select	NP_004997.4:p.Asn282Ile
NM_001199984.2:c.887A>T	NP_001186913.1:p.Asn296Ile