Canonical Allele Identifier: CA697096806
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1268584530
gnomAD v3: 13-28659162-G-C
gnomAD v4: 13-28659162-G-C
MyVariant Identifiers: chr13:g.29233299G>C (hg19) chr13:g.28659162G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659162G>C , CM000675.2:g.28659162G>C GRCh38
NC_000013.10:g.29233299G>C , CM000675.1:g.29233299G>C GRCh37
NC_000013.9:g.28131299G>C NCBI36
NG_027550.1:g.5159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-108G>C ENSP00000513414.1:n.-108G>C
ENST00000697717.1:c.-23G>C ENSP00000513415.1:n.-23G>C
ENST00000697718.1:c.-23G>C ENSP00000513416.1:n.-23G>C
ENST00000380842.5:c.-23G>C MANE Select ENSP00000370222.4:n.-23G>C
ENST00000380842.4:c.-23G>C ENSP00000370222.4:n.-23G>C
ENST00000460403.1:n.59G>C
NM_015932.5:c.-23G>C NP_057016.1:n.-23G>C
NM_015932.6:c.-23G>C MANE Select NP_057016.1:n.-23G>C
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