Canonical Allele Identifier: CA9639861
Gene: NLRP12 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.53824161G>T
GRCh37 chr19:g.54327415G>T
Revel Score:
ENST00000324134 (MANE Select) 0.076
ENST00000535162 0.076
ENST00000351894 0.076
ENST00000354278 0.076
ENST00000391775 0.076
ENST00000391773 0.076
ENST00000345770 0.076
ENST00000391772 0.076
gnomAD v2:
19:54327415 G / T
gnomAD v3:
19:53824161 G / T
gnomAD v4:
chr19-53824161-G-T
Joint Max Group AF 0.00199789 (SAS)
Genomes Max Group AF 0.00054147 (SAS)
Exomes Max Group AF 0.00204471 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53824161G>T , CM000681.2:g.53824161G>T GRCh38
NC_000019.9:g.54327415G>T , CM000681.1:g.54327415G>T GRCh37
NC_000019.8:g.59019227G>T NCBI36
NG_008651.1:g.5234C>A
NG_008651.2:g.5234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000391773.7:c.14C>A ENSP00000375653.1:p.Ala5Glu
ENST00000324134.11:c.14C>A MANE Select ENSP00000319377.6:p.Ala5Glu
ENST00000391773.6:c.14C>A ENSP00000375653.1:p.Ala5Glu
ENST00000324134.10:c.14C>A ENSP00000319377.6:p.Ala5Glu
ENST00000345770.9:c.14C>A ENSP00000341428.5:p.Ala5Glu
ENST00000391772.1:c.14C>A ENSP00000375652.1:p.Ala5Glu
ENST00000391773.5:c.14C>A ENSP00000375653.1:p.Ala5Glu
ENST00000391775.7:c.14C>A ENSP00000375655.3:p.Ala5Glu
NM_001277126.1:c.14C>A NP_001264055.1:p.Ala5Glu
NM_001277129.1:c.14C>A NP_001264058.1:p.Ala5Glu
NM_144687.3:c.14C>A NP_653288.1:p.Ala5Glu
XM_011527478.1:c.14C>A XP_011525780.1:p.Ala5Glu
XM_011527479.1:c.14C>A XP_011525781.1:p.Ala5Glu
XM_011527480.1:c.14C>A XP_011525782.1:p.Ala5Glu
XM_011527481.1:c.14C>A XP_011525783.1:p.Ala5Glu
XM_011527482.1:c.14C>A XP_011525784.1:p.Ala5Glu
XM_011527483.1:c.14C>A XP_011525785.1:p.Ala5Glu
XM_017027460.1:c.14C>A XP_016882949.1:p.Ala5Glu
XM_017027461.1:c.14C>A XP_016882950.1:p.Ala5Glu
XM_017027462.1:c.14C>A XP_016882951.1:p.Ala5Glu
NM_001277126.2:c.14C>A NP_001264055.1:p.Ala5Glu
NM_144687.4:c.14C>A MANE Select NP_653288.1:p.Ala5Glu
Search 100 bp 5'
Search 100 bp 3'