Canonical Allele Identifier: CA2081141937
Gene: POMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659145C= , CM000675.2:g.28659145C= GRCh38
NC_000013.10:g.29233282C= , CM000675.1:g.29233282C= GRCh37
NC_000013.9:g.28131282C= NCBI36
NG_027550.1:g.5142C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-125C= ENSP00000513414.1:n.-125C=
ENST00000697717.1:c.-40C= ENSP00000513415.1:n.-40C=
ENST00000380842.5:c.-40C= MANE Select ENSP00000370222.4:n.-40C=
ENST00000380842.4:c.-40C= ENSP00000370222.4:n.-40C=
ENST00000460403.1:n.42C=
NM_015932.5:c.-40C= NP_057016.1:n.-40C=
NM_015932.6:c.-40C= MANE Select NP_057016.1:n.-40C=