Canonical Allele Identifier: CA2081141951
Gene: POMP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659158G= , CM000675.2:g.28659158G= GRCh38
NC_000013.10:g.29233295G= , CM000675.1:g.29233295G= GRCh37
NC_000013.9:g.28131295G= NCBI36
NG_027550.1:g.5155G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-112G= ENSP00000513414.1:n.-112G=
ENST00000697717.1:c.-27G= ENSP00000513415.1:n.-27G=
ENST00000697718.1:c.-27G= ENSP00000513416.1:n.-27G=
ENST00000380842.5:c.-27G= MANE Select ENSP00000370222.4:n.-27G=
ENST00000380842.4:c.-27G= ENSP00000370222.4:n.-27G=
ENST00000460403.1:n.55G=
NM_015932.5:c.-27G= NP_057016.1:n.-27G=
NM_015932.6:c.-27G= MANE Select NP_057016.1:n.-27G=
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