Canonical Allele Identifier: CA2081141820
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs942652654
gnomAD v4: 13-28659022-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659022T>C , CM000675.2:g.28659022T>C GRCh38
NC_000013.10:g.29233159T>C , CM000675.1:g.29233159T>C GRCh37
NC_000013.9:g.28131159T>C NCBI36
NG_027550.1:g.5019T>C

Transcript Alleles

HGVS Amino-acid change
NM_015932.5:c.-163T>C NP_057016.1:n.-163T>C
Search 100 bp 5'
Search 100 bp 3'