Canonical Allele Identifier: CA2550680011

Gene: POMP

Linked Data

• gnomAD v4: 13-28659014-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659014T>G , CM000675.2:g.28659014T>G	GRCh38
NC_000013.10:g.29233151T>G , CM000675.1:g.29233151T>G	GRCh37
NC_000013.9:g.28131151T>G	NCBI36
NG_027550.1:g.5011T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015932.5:c.-171T>G	NP_057016.1:n.-171T>G