Canonical Allele Identifier: CA2081141916
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1884282692
gnomAD v3: 13-28659117-A-G
gnomAD v4: 13-28659117-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659117A>G , CM000675.2:g.28659117A>G GRCh38
NC_000013.10:g.29233254A>G , CM000675.1:g.29233254A>G GRCh37
NC_000013.9:g.28131254A>G NCBI36
NG_027550.1:g.5114A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-153A>G ENSP00000513414.1:n.-153A>G
ENST00000380842.4:c.-68A>G ENSP00000370222.4:n.-68A>G
ENST00000460403.1:n.14A>G
NM_015932.5:c.-68A>G NP_057016.1:n.-68A>G
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