Canonical Allele Identifier: CA633934426
Gene: NLRP5 HGNC NCBI

Linked Data

dbSNP Id: rs1433571487
gnomAD v2: 19-56500776-G-A
gnomAD v3: 19-55989410-G-A
gnomAD v4: 19-55989410-G-A
COSMIC: COSN24723398
MyVariant Identifiers: chr19:g.56500776G>A (hg19) chr19:g.55989410G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55989410G>A , CM000681.2:g.55989410G>A GRCh38
NC_000019.9:g.56500776G>A , CM000681.1:g.56500776G>A GRCh37
NC_000019.8:g.61192588G>A NCBI36
NG_046924.1:g.7628G>A
NG_051553.1:g.46579G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011526444.1:c.-72+2589G>A XP_011524746.1:n.-72+2589G>A
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