Canonical Allele Identifier: CA2622506661
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659105C>A , CM000675.2:g.28659105C>A GRCh38
NC_000013.10:g.29233242C>A , CM000675.1:g.29233242C>A GRCh37
NC_000013.9:g.28131242C>A NCBI36
NG_027550.1:g.5102C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-165C>A ENSP00000513414.1:n.-165C>A
ENST00000380842.4:c.-80C>A ENSP00000370222.4:n.-80C>A
ENST00000460403.1:n.2C>A
NM_015932.5:c.-80C>A NP_057016.1:n.-80C>A