Canonical Allele Identifier: CA2622506626
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs2137786846
gnomAD v4: 13-28659072-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659072C>G , CM000675.2:g.28659072C>G GRCh38
NC_000013.10:g.29233209C>G , CM000675.1:g.29233209C>G GRCh37
NC_000013.9:g.28131209C>G NCBI36
NG_027550.1:g.5069C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-198C>G ENSP00000513414.1:n.-198C>G
NM_015932.5:c.-113C>G NP_057016.1:n.-113C>G
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