Canonical Allele Identifier: CA2622506608

Gene: POMP

Linked Data

• gnomAD v4: 13-28659046-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659046C>T , CM000675.2:g.28659046C>T	GRCh38
NC_000013.10:g.29233183C>T , CM000675.1:g.29233183C>T	GRCh37
NC_000013.9:g.28131183C>T	NCBI36
NG_027550.1:g.5043C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015932.5:c.-139C>T	NP_057016.1:n.-139C>T