Canonical Allele Identifier: CA697096727

Gene: POMP

Linked Data

• dbSNP Id: rs1483554969
• gnomAD v3: 13-28659103-G-A
• gnomAD v4: 13-28659103-G-A
• MyVariant Identifiers: chr13:g.29233240G>A (hg19) ; chr13:g.28659103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659103G>A , CM000675.2:g.28659103G>A	GRCh38
NC_000013.10:g.29233240G>A , CM000675.1:g.29233240G>A	GRCh37
NC_000013.9:g.28131240G>A	NCBI36
NG_027550.1:g.5100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697716.1:c.-167G>A	ENSP00000513414.1:n.-167G>A
NM_015932.5:c.-82G>A	NP_057016.1:n.-82G>A