Canonical Allele Identifier: CA609144963
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs779853022
gnomAD v2: 13-29233283-G-A
gnomAD v4: 13-28659146-G-A
MyVariant Identifiers: chr13:g.29233283G>A (hg19) chr13:g.28659146G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659146G>A , CM000675.2:g.28659146G>A GRCh38
NC_000013.10:g.29233283G>A , CM000675.1:g.29233283G>A GRCh37
NC_000013.9:g.28131283G>A NCBI36
NG_027550.1:g.5143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-124G>A ENSP00000513414.1:n.-124G>A
ENST00000697717.1:c.-39G>A ENSP00000513415.1:n.-39G>A
ENST00000380842.5:c.-39G>A MANE Select ENSP00000370222.4:n.-39G>A
ENST00000380842.4:c.-39G>A ENSP00000370222.4:n.-39G>A
ENST00000460403.1:n.43G>A
NM_015932.5:c.-39G>A NP_057016.1:n.-39G>A
NM_015932.6:c.-39G>A MANE Select NP_057016.1:n.-39G>A
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