Canonical Allele Identifier: CA954446988

Gene: POMP

Linked Data

• dbSNP Id: rs960463677
• gnomAD v3: 13-28659049-C-G
• gnomAD v4: 13-28659049-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659049C>G , CM000675.2:g.28659049C>G	GRCh38
NC_000013.10:g.29233186C>G , CM000675.1:g.29233186C>G	GRCh37
NC_000013.9:g.28131186C>G	NCBI36
NG_027550.1:g.5046C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015932.5:c.-136C>G	NP_057016.1:n.-136C>G