Canonical Allele Identifier: CA310249616
Gene: NLRP5 HGNC NCBI

Linked Data

dbSNP Id: rs780099709
gnomAD v2: 19-56500775-C-T
gnomAD v3: 19-55989409-C-T
gnomAD v4: 19-55989409-C-T
COSMIC: COSN26819602
MyVariant Identifiers: chr19:g.56500775C>T (hg19) chr19:g.55989409C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55989409C>T , CM000681.2:g.55989409C>T GRCh38
NC_000019.9:g.56500775C>T , CM000681.1:g.56500775C>T GRCh37
NC_000019.8:g.61192587C>T NCBI36
NG_046924.1:g.7627C>T
NG_051553.1:g.46578C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011526444.1:c.-72+2588C>T XP_011524746.1:n.-72+2588C>T
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