Canonical Allele Identifier: CA2622506667
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659110-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659110C>T , CM000675.2:g.28659110C>T GRCh38
NC_000013.10:g.29233247C>T , CM000675.1:g.29233247C>T GRCh37
NC_000013.9:g.28131247C>T NCBI36
NG_027550.1:g.5107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-160C>T ENSP00000513414.1:n.-160C>T
ENST00000380842.4:c.-75C>T ENSP00000370222.4:n.-75C>T
ENST00000460403.1:n.7C>T
NM_015932.5:c.-75C>T NP_057016.1:n.-75C>T
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