Canonical Allele Identifier: CA2081141879
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1884281170
gnomAD v4: 13-28659075-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659075G>C , CM000675.2:g.28659075G>C GRCh38
NC_000013.10:g.29233212G>C , CM000675.1:g.29233212G>C GRCh37
NC_000013.9:g.28131212G>C NCBI36
NG_027550.1:g.5072G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-195G>C ENSP00000513414.1:n.-195G>C
NM_015932.5:c.-110G>C NP_057016.1:n.-110G>C
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