Canonical Allele Identifier: CA247677236
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs952354415
gnomAD v3: 13-28659111-C-T
gnomAD v4: 13-28659111-C-T
MyVariant Identifiers: chr13:g.29233248C>T (hg19) chr13:g.28659111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659111C>T , CM000675.2:g.28659111C>T GRCh38
NC_000013.10:g.29233248C>T , CM000675.1:g.29233248C>T GRCh37
NC_000013.9:g.28131248C>T NCBI36
NG_027550.1:g.5108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-159C>T ENSP00000513414.1:n.-159C>T
ENST00000380842.4:c.-74C>T ENSP00000370222.4:n.-74C>T
ENST00000460403.1:n.8C>T
NM_015932.5:c.-74C>T NP_057016.1:n.-74C>T
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