Canonical Allele Identifier: CA2622506631
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659078C>A , CM000675.2:g.28659078C>A GRCh38
NC_000013.10:g.29233215C>A , CM000675.1:g.29233215C>A GRCh37
NC_000013.9:g.28131215C>A NCBI36
NG_027550.1:g.5075C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-192C>A ENSP00000513414.1:n.-192C>A
NM_015932.5:c.-107C>A NP_057016.1:n.-107C>A