Canonical Allele Identifier: CA310230888
Gene: NLRP13 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.55932065T>G
GRCh37 chr19:g.56443431T>G
Revel Score:
ENST00000342929 (MANE Select) 0.044
gnomAD v4:
chr19-55932065-T-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV004095515
ClinVar Variation:
2230430
dbSNP:
1044840044
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55932065T>G , CM000681.2:g.55932065T>G GRCh38
NC_000019.9:g.56443431T>G , CM000681.1:g.56443431T>G GRCh37
NC_000019.8:g.61135243T>G NCBI36
NG_053013.1:g.5272A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342929.4:c.247A>C MANE Select ENSP00000343891.3:p.Lys83Gln
ENST00000342929.3:c.247A>C ENSP00000343891.3:p.Lys83Gln
ENST00000588751.5:c.247A>C ENSP00000467899.1:p.Lys83Gln
NM_176810.2:c.247A>C MANE Select NP_789780.2:p.Lys83Gln
XM_005258510.1:c.247A>C XP_005258567.1:p.Lys83Gln
NM_001321057.1:c.247A>C NP_001307986.1:p.Lys83Gln
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