Canonical Allele Identifier: CA2622506649
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659097T>C , CM000675.2:g.28659097T>C GRCh38
NC_000013.10:g.29233234T>C , CM000675.1:g.29233234T>C GRCh37
NC_000013.9:g.28131234T>C NCBI36
NG_027550.1:g.5094T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697716.1:c.-173T>C ENSP00000513414.1:n.-173T>C
NM_015932.5:c.-88T>C NP_057016.1:n.-88T>C