Canonical Allele Identifier: CA2622506678
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659124-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659124G>A , CM000675.2:g.28659124G>A GRCh38
NC_000013.10:g.29233261G>A , CM000675.1:g.29233261G>A GRCh37
NC_000013.9:g.28131261G>A NCBI36
NG_027550.1:g.5121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-146G>A ENSP00000513414.1:n.-146G>A
ENST00000380842.4:c.-61G>A ENSP00000370222.4:n.-61G>A
ENST00000460403.1:n.21G>A
NM_015932.5:c.-61G>A NP_057016.1:n.-61G>A
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