Canonical Allele Identifier: CA2622506662
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659106C>T , CM000675.2:g.28659106C>T GRCh38
NC_000013.10:g.29233243C>T , CM000675.1:g.29233243C>T GRCh37
NC_000013.9:g.28131243C>T NCBI36
NG_027550.1:g.5103C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697716.1:c.-164C>T ENSP00000513414.1:n.-164C>T
ENST00000380842.4:c.-79C>T ENSP00000370222.4:n.-79C>T
ENST00000460403.1:n.3C>T
NM_015932.5:c.-79C>T NP_057016.1:n.-79C>T