Canonical Allele Identifier: CA2662802102
Gene: NDUFS1 HGNC NCBI

Linked Data

gnomAD v4: 2-206122080-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122080A>G , CM000664.2:g.206122080A>G GRCh38
NC_000002.11:g.206986804A>G , CM000664.1:g.206986804A>G GRCh37
NC_000002.10:g.206695049A>G NCBI36
NG_009248.1:g.42384T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*2105T>C MANE Select ENSP00000233190.5:n.*2105T>C
ENST00000233190.10:c.*2105T>C ENSP00000233190.5:n.*2105T>C
NM_001199981.2:c.*2105T>C NP_001186910.1:n.*2105T>C
NM_001199982.2:c.*2105T>C NP_001186911.1:n.*2105T>C
NM_001199983.2:c.*2105T>C NP_001186912.1:n.*2105T>C
NM_005006.7:c.*2105T>C MANE Select NP_004997.4:n.*2105T>C
NM_001199984.2:c.*2105T>C NP_001186913.1:n.*2105T>C
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