Canonical Allele Identifier: CA2496476553

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691124024
• gnomAD v3: 2-206122453-AC-A
• gnomAD v4: 2-206122453-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122456del , CM000664.2:g.206122456del	GRCh38
NC_000002.11:g.206987180del , CM000664.1:g.206987180del	GRCh37
NC_000002.10:g.206695425del	NCBI36
NG_009248.1:g.42010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*1731del MANE Select	ENSP00000233190.5:n.*1731del
ENST00000233190.10:c.*1731del	ENSP00000233190.5:n.*1731del
NM_001199981.2:c.*1731del	NP_001186910.1:n.*1731del
NM_001199982.2:c.*1731del	NP_001186911.1:n.*1731del
NM_001199983.2:c.*1731del	NP_001186912.1:n.*1731del
NM_005006.7:c.*1731del MANE Select	NP_004997.4:n.*1731del
NM_001199984.2:c.*1731del	NP_001186913.1:n.*1731del