Canonical Allele Identifier: CA2594319043
Gene: THEM7P HGNC NCBI

Linked Data

gnomAD v3: 11-32342770-A-G
gnomAD v4: 11-32342770-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32342770A>G , CM000673.2:g.32342770A>G GRCh38
NC_000011.9:g.32364316A>G , CM000673.1:g.32364316A>G GRCh37
NC_000011.8:g.32320892A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000525689.2:n.122+518T>C
ENST00000525689.1:n.122+518T>C
Search 100 bp 5'
Search 100 bp 3'