Canonical Allele Identifier: CA247677217
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs186909938
gnomAD v3: 13-28659047-G-A
gnomAD v4: 13-28659047-G-A
MyVariant Identifiers: chr13:g.28659047G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659047G>A , CM000675.2:g.28659047G>A GRCh38
NC_000013.10:g.29233184G>A , CM000675.1:g.29233184G>A GRCh37
NC_000013.9:g.28131184G>A NCBI36
NG_027550.1:g.5044G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015932.5:c.-138G>A NP_057016.1:n.-138G>A
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