Canonical Allele Identifier: CA609144931
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1373023721
gnomAD v2: 13-29233219-C-G
gnomAD v3: 13-28659082-C-G
gnomAD v4: 13-28659082-C-G
MyVariant Identifiers: chr13:g.29233219C>G (hg19) chr13:g.28659082C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659082C>G , CM000675.2:g.28659082C>G GRCh38
NC_000013.10:g.29233219C>G , CM000675.1:g.29233219C>G GRCh37
NC_000013.9:g.28131219C>G NCBI36
NG_027550.1:g.5079C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-188C>G ENSP00000513414.1:n.-188C>G
NM_015932.5:c.-103C>G NP_057016.1:n.-103C>G
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