Canonical Allele Identifier: CA310249788

Gene: NLRP5

Linked Data

• dbSNP Id: rs189487659
• gnomAD v2: 19-56500917-C-T
• gnomAD v3: 19-55989551-C-T
• gnomAD v4: 19-55989551-C-T
• MyVariant Identifiers: chr19:g.56500917C>T (hg19) ; chr19:g.55989551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55989551C>T , CM000681.2:g.55989551C>T	GRCh38
NC_000019.9:g.56500917C>T , CM000681.1:g.56500917C>T	GRCh37
NC_000019.8:g.61192729C>T	NCBI36
NG_046924.1:g.7769C>T
NG_051553.1:g.46720C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011526444.1:c.-72+2730C>T	XP_011524746.1:n.-72+2730C>T