Canonical Allele Identifier: CA2622506644
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659090-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659090C>A , CM000675.2:g.28659090C>A GRCh38
NC_000013.10:g.29233227C>A , CM000675.1:g.29233227C>A GRCh37
NC_000013.9:g.28131227C>A NCBI36
NG_027550.1:g.5087C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-180C>A ENSP00000513414.1:n.-180C>A
NM_015932.5:c.-95C>A NP_057016.1:n.-95C>A
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