Canonical Allele Identifier: CA2622506674
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659121-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659121G>C , CM000675.2:g.28659121G>C GRCh38
NC_000013.10:g.29233258G>C , CM000675.1:g.29233258G>C GRCh37
NC_000013.9:g.28131258G>C NCBI36
NG_027550.1:g.5118G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-149G>C ENSP00000513414.1:n.-149G>C
ENST00000380842.4:c.-64G>C ENSP00000370222.4:n.-64G>C
ENST00000460403.1:n.18G>C
NM_015932.5:c.-64G>C NP_057016.1:n.-64G>C
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