Canonical Allele Identifier: CA2081141957
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs771652313
gnomAD v4: 13-28659164-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659164C>T , CM000675.2:g.28659164C>T GRCh38
NC_000013.10:g.29233301C>T , CM000675.1:g.29233301C>T GRCh37
NC_000013.9:g.28131301C>T NCBI36
NG_027550.1:g.5161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-106C>T ENSP00000513414.1:n.-106C>T
ENST00000697717.1:c.-21C>T ENSP00000513415.1:n.-21C>T
ENST00000697718.1:c.-21C>T ENSP00000513416.1:n.-21C>T
ENST00000380842.5:c.-21C>T MANE Select ENSP00000370222.4:n.-21C>T
ENST00000380842.4:c.-21C>T ENSP00000370222.4:n.-21C>T
ENST00000460403.1:n.61C>T
NM_015932.5:c.-21C>T NP_057016.1:n.-21C>T
NM_015932.6:c.-21C>T MANE Select NP_057016.1:n.-21C>T
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