Canonical Allele Identifier: CA2622506622
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659069T>C , CM000675.2:g.28659069T>C GRCh38
NC_000013.10:g.29233206T>C , CM000675.1:g.29233206T>C GRCh37
NC_000013.9:g.28131206T>C NCBI36
NG_027550.1:g.5066T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-201T>C ENSP00000513414.1:n.-201T>C
NM_015932.5:c.-116T>C NP_057016.1:n.-116T>C