Canonical Allele Identifier: CA2622506711
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659153-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659153G>T , CM000675.2:g.28659153G>T GRCh38
NC_000013.10:g.29233290G>T , CM000675.1:g.29233290G>T GRCh37
NC_000013.9:g.28131290G>T NCBI36
NG_027550.1:g.5150G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-117G>T ENSP00000513414.1:n.-117G>T
ENST00000697717.1:c.-32G>T ENSP00000513415.1:n.-32G>T
ENST00000697718.1:c.-32G>T ENSP00000513416.1:n.-32G>T
ENST00000380842.5:c.-32G>T MANE Select ENSP00000370222.4:n.-32G>T
ENST00000380842.4:c.-32G>T ENSP00000370222.4:n.-32G>T
ENST00000460403.1:n.50G>T
NM_015932.5:c.-32G>T NP_057016.1:n.-32G>T
NM_015932.6:c.-32G>T MANE Select NP_057016.1:n.-32G>T
Search 100 bp 5'
Search 100 bp 3'