Canonical Allele Identifier: CA2622506651
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659098-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659098G>A , CM000675.2:g.28659098G>A GRCh38
NC_000013.10:g.29233235G>A , CM000675.1:g.29233235G>A GRCh37
NC_000013.9:g.28131235G>A NCBI36
NG_027550.1:g.5095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-172G>A ENSP00000513414.1:n.-172G>A
NM_015932.5:c.-87G>A NP_057016.1:n.-87G>A
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