Canonical Allele Identifier: CA2622506723
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659163-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659163G>C , CM000675.2:g.28659163G>C GRCh38
NC_000013.10:g.29233300G>C , CM000675.1:g.29233300G>C GRCh37
NC_000013.9:g.28131300G>C NCBI36
NG_027550.1:g.5160G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-107G>C ENSP00000513414.1:n.-107G>C
ENST00000697717.1:c.-22G>C ENSP00000513415.1:n.-22G>C
ENST00000697718.1:c.-22G>C ENSP00000513416.1:n.-22G>C
ENST00000380842.5:c.-22G>C MANE Select ENSP00000370222.4:n.-22G>C
ENST00000380842.4:c.-22G>C ENSP00000370222.4:n.-22G>C
ENST00000460403.1:n.60G>C
NM_015932.5:c.-22G>C NP_057016.1:n.-22G>C
NM_015932.6:c.-22G>C MANE Select NP_057016.1:n.-22G>C
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