Canonical Allele Identifier: CA6930951
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs759869912
ExAC: 13:29233275 C / T
gnomAD v2: 13-29233275-C-T
gnomAD v4: 13-28659138-C-T
MyVariant Identifiers: chr13:g.29233275C>T (hg19) chr13:g.28659138C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659138C>T , CM000675.2:g.28659138C>T GRCh38
NC_000013.10:g.29233275C>T , CM000675.1:g.29233275C>T GRCh37
NC_000013.9:g.28131275C>T NCBI36
NG_027550.1:g.5135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-132C>T ENSP00000513414.1:n.-132C>T
ENST00000697717.1:c.-47C>T ENSP00000513415.1:n.-47C>T
ENST00000380842.5:c.-47C>T MANE Select ENSP00000370222.4:n.-47C>T
ENST00000380842.4:c.-47C>T ENSP00000370222.4:n.-47C>T
ENST00000460403.1:n.35C>T
NM_015932.5:c.-47C>T NP_057016.1:n.-47C>T
NM_015932.6:c.-47C>T MANE Select NP_057016.1:n.-47C>T
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