Canonical Allele Identifier: CA6930954
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs750418216
ExAC: 13:29233279 T / G
gnomAD v2: 13-29233279-T-G
MyVariant Identifiers: chr13:g.29233279T>G (hg19) chr13:g.28659142T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659142T>G , CM000675.2:g.28659142T>G GRCh38
NC_000013.10:g.29233279T>G , CM000675.1:g.29233279T>G GRCh37
NC_000013.9:g.28131279T>G NCBI36
NG_027550.1:g.5139T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-128T>G ENSP00000513414.1:n.-128T>G
ENST00000697717.1:c.-43T>G ENSP00000513415.1:n.-43T>G
ENST00000380842.5:c.-43T>G MANE Select ENSP00000370222.4:n.-43T>G
ENST00000380842.4:c.-43T>G ENSP00000370222.4:n.-43T>G
ENST00000460403.1:n.39T>G
NM_015932.5:c.-43T>G NP_057016.1:n.-43T>G
NM_015932.6:c.-43T>G MANE Select NP_057016.1:n.-43T>G
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