Canonical Allele Identifier: CA407598743
Gene: NLRP8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.56466804C>A (hg19) chr19:g.55955438C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55955438C>A , CM000681.2:g.55955438C>A GRCh38
NC_000019.9:g.56466804C>A , CM000681.1:g.56466804C>A GRCh37
NC_000019.8:g.61158616C>A NCBI36
NG_051553.1:g.12607C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291971.7:c.1380C>A MANE Select ENSP00000291971.3:p.Asp460Glu
ENST00000590542.1:c.1380C>A ENSP00000468121.1:p.Asp460Glu
NM_001317000.1:c.1380C>A NP_001303929.1:p.Asp460Glu
NM_176811.2:c.1380C>A MANE Select NP_789781.2:p.Asp460Glu
Search 100 bp 5'
Search 100 bp 3'