Canonical Allele Identifier: CA609144941
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs531435814
gnomAD v2: 13-29233269-C-G
gnomAD v3: 13-28659132-C-G
gnomAD v4: 13-28659132-C-G
MyVariant Identifiers: chr13:g.29233269C>G (hg19) chr13:g.28659132C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659132C>G , CM000675.2:g.28659132C>G GRCh38
NC_000013.10:g.29233269C>G , CM000675.1:g.29233269C>G GRCh37
NC_000013.9:g.28131269C>G NCBI36
NG_027550.1:g.5129C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-138C>G ENSP00000513414.1:n.-138C>G
ENST00000697717.1:c.-53C>G ENSP00000513415.1:n.-53C>G
ENST00000380842.5:c.-53C>G MANE Select ENSP00000370222.4:n.-53C>G
ENST00000380842.4:c.-53C>G ENSP00000370222.4:n.-53C>G
ENST00000460403.1:n.29C>G
NM_015932.5:c.-53C>G NP_057016.1:n.-53C>G
NM_015932.6:c.-53C>G MANE Select NP_057016.1:n.-53C>G
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