Canonical Allele Identifier: CA483289001
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659102-G-A
MyVariant Identifiers: chr13:g.29233239G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659102G>A , CM000675.2:g.28659102G>A GRCh38
NC_000013.10:g.29233239G>A , CM000675.1:g.29233239G>A GRCh37
NC_000013.9:g.28131239G>A NCBI36
NG_027550.1:g.5099G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-168G>A ENSP00000513414.1:n.-168G>A
NM_015932.5:c.-83G>A NP_057016.1:n.-83G>A
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