Canonical Allele Identifier: CA2798636134
Gene: POMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659161A>T , CM000675.2:g.28659161A>T GRCh38
NC_000013.10:g.29233298A>T , CM000675.1:g.29233298A>T GRCh37
NC_000013.9:g.28131298A>T NCBI36
NG_027550.1:g.5158A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-109A>T ENSP00000513414.1:n.-109A>T
ENST00000697717.1:c.-24A>T ENSP00000513415.1:n.-24A>T
ENST00000697718.1:c.-24A>T ENSP00000513416.1:n.-24A>T
ENST00000380842.5:c.-24A>T MANE Select ENSP00000370222.4:n.-24A>T
ENST00000380842.4:c.-24A>T ENSP00000370222.4:n.-24A>T
ENST00000460403.1:n.58A>T
NM_015932.5:c.-24A>T NP_057016.1:n.-24A>T
NM_015932.6:c.-24A>T MANE Select NP_057016.1:n.-24A>T