Canonical Allele Identifier: CA2081141817
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1884275786
gnomAD v4: 13-28659020-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659020C>T , CM000675.2:g.28659020C>T GRCh38
NC_000013.10:g.29233157C>T , CM000675.1:g.29233157C>T GRCh37
NC_000013.9:g.28131157C>T NCBI36
NG_027550.1:g.5017C>T

Transcript Alleles

HGVS Amino-acid change
NM_015932.5:c.-165C>T NP_057016.1:n.-165C>T
Search 100 bp 5'
Search 100 bp 3'