Canonical Allele Identifier: CA2081141954
Gene: POMP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659162G= , CM000675.2:g.28659162G= GRCh38
NC_000013.10:g.29233299G= , CM000675.1:g.29233299G= GRCh37
NC_000013.9:g.28131299G= NCBI36
NG_027550.1:g.5159G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-108G= ENSP00000513414.1:n.-108G=
ENST00000697717.1:c.-23G= ENSP00000513415.1:n.-23G=
ENST00000697718.1:c.-23G= ENSP00000513416.1:n.-23G=
ENST00000380842.5:c.-23G= MANE Select ENSP00000370222.4:n.-23G=
ENST00000380842.4:c.-23G= ENSP00000370222.4:n.-23G=
ENST00000460403.1:n.59G=
NM_015932.5:c.-23G= NP_057016.1:n.-23G=
NM_015932.6:c.-23G= MANE Select NP_057016.1:n.-23G=
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