Canonical Allele Identifier: CA2662802281
Gene: NDUFS1 HGNC NCBI

Linked Data

gnomAD v4: 2-206122352-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122352G>T , CM000664.2:g.206122352G>T GRCh38
NC_000002.11:g.206987076G>T , CM000664.1:g.206987076G>T GRCh37
NC_000002.10:g.206695321G>T NCBI36
NG_009248.1:g.42112C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1833C>A MANE Select ENSP00000233190.5:n.*1833C>A
ENST00000233190.10:c.*1833C>A ENSP00000233190.5:n.*1833C>A
NM_001199981.2:c.*1833C>A NP_001186910.1:n.*1833C>A
NM_001199982.2:c.*1833C>A NP_001186911.1:n.*1833C>A
NM_001199983.2:c.*1833C>A NP_001186912.1:n.*1833C>A
NM_005006.7:c.*1833C>A MANE Select NP_004997.4:n.*1833C>A
NM_001199984.2:c.*1833C>A NP_001186913.1:n.*1833C>A
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