Canonical Allele Identifier: CA609144893
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1411238598
gnomAD v2: 13-29233155-A-C
gnomAD v3: 13-28659018-A-C
gnomAD v4: 13-28659018-A-C
MyVariant Identifiers: chr13:g.29233155A>C (hg19) chr13:g.28659018A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659018A>C , CM000675.2:g.28659018A>C GRCh38
NC_000013.10:g.29233155A>C , CM000675.1:g.29233155A>C GRCh37
NC_000013.9:g.28131155A>C NCBI36
NG_027550.1:g.5015A>C

Transcript Alleles

HGVS Amino-acid change
NM_015932.5:c.-167A>C NP_057016.1:n.-167A>C
Search 100 bp 5'
Search 100 bp 3'