Canonical Allele Identifier: CA2622506646
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659092G>T , CM000675.2:g.28659092G>T GRCh38
NC_000013.10:g.29233229G>T , CM000675.1:g.29233229G>T GRCh37
NC_000013.9:g.28131229G>T NCBI36
NG_027550.1:g.5089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-178G>T ENSP00000513414.1:n.-178G>T
NM_015932.5:c.-93G>T NP_057016.1:n.-93G>T