Canonical Allele Identifier: CA2622506707
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659148-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659148T>C , CM000675.2:g.28659148T>C GRCh38
NC_000013.10:g.29233285T>C , CM000675.1:g.29233285T>C GRCh37
NC_000013.9:g.28131285T>C NCBI36
NG_027550.1:g.5145T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-122T>C ENSP00000513414.1:n.-122T>C
ENST00000697717.1:c.-37T>C ENSP00000513415.1:n.-37T>C
ENST00000380842.5:c.-37T>C MANE Select ENSP00000370222.4:n.-37T>C
ENST00000380842.4:c.-37T>C ENSP00000370222.4:n.-37T>C
ENST00000460403.1:n.45T>C
NM_015932.5:c.-37T>C NP_057016.1:n.-37T>C
NM_015932.6:c.-37T>C MANE Select NP_057016.1:n.-37T>C
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