Canonical Allele Identifier: CA247677204

Gene: POMP

Linked Data

• dbSNP Id: rs942652654
• gnomAD v3: 13-28659022-T-G
• gnomAD v4: 13-28659022-T-G
• MyVariant Identifiers: chr13:g.29233159T>G (hg19) ; chr13:g.28659022T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659022T>G , CM000675.2:g.28659022T>G	GRCh38
NC_000013.10:g.29233159T>G , CM000675.1:g.29233159T>G	GRCh37
NC_000013.9:g.28131159T>G	NCBI36
NG_027550.1:g.5019T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015932.5:c.-163T>G	NP_057016.1:n.-163T>G