Canonical Allele Identifier: CA2662802086
Gene: NDUFS1 HGNC NCBI

Linked Data

gnomAD v4: 2-206122062-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122062C>A , CM000664.2:g.206122062C>A GRCh38
NC_000002.11:g.206986786C>A , CM000664.1:g.206986786C>A GRCh37
NC_000002.10:g.206695031C>A NCBI36
NG_009248.1:g.42402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*2123G>T MANE Select ENSP00000233190.5:n.*2123G>T
ENST00000233190.10:c.*2123G>T ENSP00000233190.5:n.*2123G>T
NM_001199981.2:c.*2123G>T NP_001186910.1:n.*2123G>T
NM_001199982.2:c.*2123G>T NP_001186911.1:n.*2123G>T
NM_001199983.2:c.*2123G>T NP_001186912.1:n.*2123G>T
NM_005006.7:c.*2123G>T MANE Select NP_004997.4:n.*2123G>T
NM_001199984.2:c.*2123G>T NP_001186913.1:n.*2123G>T
Search 100 bp 5'
Search 100 bp 3'