Canonical Allele Identifier: CA2575381473
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs2137786874
gnomAD v4: 13-28659092-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659092G>A , CM000675.2:g.28659092G>A GRCh38
NC_000013.10:g.29233229G>A , CM000675.1:g.29233229G>A GRCh37
NC_000013.9:g.28131229G>A NCBI36
NG_027550.1:g.5089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-178G>A ENSP00000513414.1:n.-178G>A
NM_015932.5:c.-93G>A NP_057016.1:n.-93G>A
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