Canonical Allele Identifier: CA247677233

Gene: POMP

Linked Data

• dbSNP Id: rs377702347
• gnomAD v2: 13-29233242-C-T
• gnomAD v3: 13-28659105-C-T
• gnomAD v4: 13-28659105-C-T
• MyVariant Identifiers: chr13:g.29233242C>T (hg19) ; chr13:g.28659105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659105C>T , CM000675.2:g.28659105C>T	GRCh38
NC_000013.10:g.29233242C>T , CM000675.1:g.29233242C>T	GRCh37
NC_000013.9:g.28131242C>T	NCBI36
NG_027550.1:g.5102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697716.1:c.-165C>T	ENSP00000513414.1:n.-165C>T
ENST00000380842.4:c.-80C>T	ENSP00000370222.4:n.-80C>T
ENST00000460403.1:n.2C>T
NM_015932.5:c.-80C>T	NP_057016.1:n.-80C>T