Canonical Allele Identifier: CA2594319039
Gene: THEM7P HGNC NCBI

Linked Data

dbSNP Id: rs2133596056
gnomAD v3: 11-32342589-A-G
gnomAD v4: 11-32342589-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32342589A>G , CM000673.2:g.32342589A>G GRCh38
NC_000011.9:g.32364135A>G , CM000673.1:g.32364135A>G GRCh37
NC_000011.8:g.32320711A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000525689.2:n.122+699T>C
ENST00000525689.1:n.122+699T>C
Search 100 bp 5'
Search 100 bp 3'