Canonical Allele Identifier: CA2622506712
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659154-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659154G>T , CM000675.2:g.28659154G>T GRCh38
NC_000013.10:g.29233291G>T , CM000675.1:g.29233291G>T GRCh37
NC_000013.9:g.28131291G>T NCBI36
NG_027550.1:g.5151G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-116G>T ENSP00000513414.1:n.-116G>T
ENST00000697717.1:c.-31G>T ENSP00000513415.1:n.-31G>T
ENST00000697718.1:c.-31G>T ENSP00000513416.1:n.-31G>T
ENST00000380842.5:c.-31G>T MANE Select ENSP00000370222.4:n.-31G>T
ENST00000380842.4:c.-31G>T ENSP00000370222.4:n.-31G>T
ENST00000460403.1:n.51G>T
NM_015932.5:c.-31G>T NP_057016.1:n.-31G>T
NM_015932.6:c.-31G>T MANE Select NP_057016.1:n.-31G>T
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