Canonical Allele Identifier: CA2622506720
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659161-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659161A>G , CM000675.2:g.28659161A>G GRCh38
NC_000013.10:g.29233298A>G , CM000675.1:g.29233298A>G GRCh37
NC_000013.9:g.28131298A>G NCBI36
NG_027550.1:g.5158A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-109A>G ENSP00000513414.1:n.-109A>G
ENST00000697717.1:c.-24A>G ENSP00000513415.1:n.-24A>G
ENST00000697718.1:c.-24A>G ENSP00000513416.1:n.-24A>G
ENST00000380842.5:c.-24A>G MANE Select ENSP00000370222.4:n.-24A>G
ENST00000380842.4:c.-24A>G ENSP00000370222.4:n.-24A>G
ENST00000460403.1:n.58A>G
NM_015932.5:c.-24A>G NP_057016.1:n.-24A>G
NM_015932.6:c.-24A>G MANE Select NP_057016.1:n.-24A>G
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