Canonical Allele Identifier: CA247677235
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs996516877
gnomAD v3: 13-28659108-G-C
gnomAD v4: 13-28659108-G-C
MyVariant Identifiers: chr13:g.29233245G>C (hg19) chr13:g.28659108G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659108G>C , CM000675.2:g.28659108G>C GRCh38
NC_000013.10:g.29233245G>C , CM000675.1:g.29233245G>C GRCh37
NC_000013.9:g.28131245G>C NCBI36
NG_027550.1:g.5105G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-162G>C ENSP00000513414.1:n.-162G>C
ENST00000380842.4:c.-77G>C ENSP00000370222.4:n.-77G>C
ENST00000460403.1:n.5G>C
NM_015932.5:c.-77G>C NP_057016.1:n.-77G>C
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