Canonical Allele Identifier: CA2622506724
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659166-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659166G>A , CM000675.2:g.28659166G>A GRCh38
NC_000013.10:g.29233303G>A , CM000675.1:g.29233303G>A GRCh37
NC_000013.9:g.28131303G>A NCBI36
NG_027550.1:g.5163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-104G>A ENSP00000513414.1:n.-104G>A
ENST00000697717.1:c.-19G>A ENSP00000513415.1:n.-19G>A
ENST00000697718.1:c.-19G>A ENSP00000513416.1:n.-19G>A
ENST00000380842.5:c.-19G>A MANE Select ENSP00000370222.4:n.-19G>A
ENST00000380842.4:c.-19G>A ENSP00000370222.4:n.-19G>A
ENST00000460403.1:n.63G>A
NM_015932.5:c.-19G>A NP_057016.1:n.-19G>A
NM_015932.6:c.-19G>A MANE Select NP_057016.1:n.-19G>A
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