Canonical Allele Identifier: CA310249678
Gene: NLRP5 HGNC NCBI

Linked Data

dbSNP Id: rs146639290
gnomAD v2: 19-56500845-C-G
gnomAD v3: 19-55989479-C-G
gnomAD v4: 19-55989479-C-G
MyVariant Identifiers: chr19:g.56500845C>G (hg19) chr19:g.55989479C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55989479C>G , CM000681.2:g.55989479C>G GRCh38
NC_000019.9:g.56500845C>G , CM000681.1:g.56500845C>G GRCh37
NC_000019.8:g.61192657C>G NCBI36
NG_046924.1:g.7697C>G
NG_051553.1:g.46648C>G

Transcript Alleles

HGVS Amino-acid Change
XM_011526444.1:c.-72+2658C>G XP_011524746.1:n.-72+2658C>G
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