Canonical Allele Identifier: CA2622506652
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659098G>T , CM000675.2:g.28659098G>T GRCh38
NC_000013.10:g.29233235G>T , CM000675.1:g.29233235G>T GRCh37
NC_000013.9:g.28131235G>T NCBI36
NG_027550.1:g.5095G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-172G>T ENSP00000513414.1:n.-172G>T
NM_015932.5:c.-87G>T NP_057016.1:n.-87G>T