Canonical Allele Identifier: CA609144930
Gene: POMP HGNC NCBI

Linked Data

dbSNP Id: rs1454743430
gnomAD v2: 13-29233202-T-C
gnomAD v3: 13-28659065-T-C
gnomAD v4: 13-28659065-T-C
MyVariant Identifiers: chr13:g.29233202T>C (hg19) chr13:g.28659065T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659065T>C , CM000675.2:g.28659065T>C GRCh38
NC_000013.10:g.29233202T>C , CM000675.1:g.29233202T>C GRCh37
NC_000013.9:g.28131202T>C NCBI36
NG_027550.1:g.5062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-205T>C ENSP00000513414.1:n.-205T>C
NM_015932.5:c.-120T>C NP_057016.1:n.-120T>C
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