Canonical Allele Identifier: CA14649071
Gene: NLRP5 HGNC NCBI

Linked Data

dbSNP Id: rs306451
gnomAD v2: 19-56500951-T-C
gnomAD v3: 19-55989585-T-C
gnomAD v4: 19-55989585-T-C
MyVariant Identifiers: chr19:g.56500951T>C (hg19) chr19:g.55989585T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55989585T>C , CM000681.2:g.55989585T>C GRCh38
NC_000019.9:g.56500951T>C , CM000681.1:g.56500951T>C GRCh37
NC_000019.8:g.61192763T>C NCBI36
NG_046924.1:g.7803T>C
NG_051553.1:g.46754T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011526444.1:c.-72+2764T>C XP_011524746.1:n.-72+2764T>C
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