Canonical Allele Identifier: CA247677226

Gene: POMP

Linked Data

• dbSNP Id: rs527752032
• MyVariant Identifiers: chr13:g.29233204C>T (hg19) ; chr13:g.28659067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659067C>T , CM000675.2:g.28659067C>T	GRCh38
NC_000013.10:g.29233204C>T , CM000675.1:g.29233204C>T	GRCh37
NC_000013.9:g.28131204C>T	NCBI36
NG_027550.1:g.5064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697716.1:c.-203C>T	ENSP00000513414.1:n.-203C>T
NM_015932.5:c.-118C>T	NP_057016.1:n.-118C>T