Canonical Allele Identifier: CA310255754

Gene: NLRP5

Linked Data

• dbSNP Id: rs903659679
• gnomAD v2: 19-56500923-T-C
• gnomAD v3: 19-55989557-T-C
• gnomAD v4: 19-55989557-T-C
• MyVariant Identifiers: chr19:g.56500923T>C (hg19) ; chr19:g.55989557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55989557T>C , CM000681.2:g.55989557T>C	GRCh38
NC_000019.9:g.56500923T>C , CM000681.1:g.56500923T>C	GRCh37
NC_000019.8:g.61192735T>C	NCBI36
NG_046924.1:g.7775T>C
NG_051553.1:g.46726T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011526444.1:c.-72+2736T>C	XP_011524746.1:n.-72+2736T>C