Canonical Allele Identifier: CA14679676
Gene: NLRP5 HGNC NCBI

Linked Data

dbSNP Id: rs306452
gnomAD v2: 19-56500940-G-C
gnomAD v3: 19-55989574-G-C
gnomAD v4: 19-55989574-G-C
MyVariant Identifiers: chr19:g.56500940G>C (hg19) chr19:g.55989574G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55989574G>C , CM000681.2:g.55989574G>C GRCh38
NC_000019.9:g.56500940G>C , CM000681.1:g.56500940G>C GRCh37
NC_000019.8:g.61192752G>C NCBI36
NG_046924.1:g.7792G>C
NG_051553.1:g.46743G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011526444.1:c.-72+2753G>C XP_011524746.1:n.-72+2753G>C
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