Canonical Allele Identifier: CA2622506660
Gene: POMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659104G>T , CM000675.2:g.28659104G>T GRCh38
NC_000013.10:g.29233241G>T , CM000675.1:g.29233241G>T GRCh37
NC_000013.9:g.28131241G>T NCBI36
NG_027550.1:g.5101G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-166G>T ENSP00000513414.1:n.-166G>T
ENST00000380842.4:c.-81G>T ENSP00000370222.4:n.-81G>T
ENST00000460403.1:n.1G>T
NM_015932.5:c.-81G>T NP_057016.1:n.-81G>T