Canonical Allele Identifier: CA10649050

Gene: NLRP12

Linked Data

• ClinVar Variation Id: 330053
• ClinVar RCV Id: RCV000330513 ; RCV003221927
• dbSNP Id: rs190223587
• gnomAD v2: 19-54327571-G-T
• gnomAD v3: 19-53824317-G-T
• gnomAD v4: 19-53824317-G-T
• MyVariant Identifiers: chr19:g.54327571G>T (hg19) ; chr19:g.53824317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53824317G>T , CM000681.2:g.53824317G>T	GRCh38
NC_000019.9:g.54327571G>T , CM000681.1:g.54327571G>T	GRCh37
NC_000019.8:g.59019383G>T	NCBI36
NG_008651.1:g.5078C>A
NG_008651.2:g.5078C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391773.7:c.-143C>A	ENSP00000375653.1:n.-143C>A
ENST00000324134.10:c.-143C>A	ENSP00000319377.6:n.-143C>A
ENST00000345770.9:c.-143C>A	ENSP00000341428.5:n.-143C>A
ENST00000391772.1:c.-143C>A	ENSP00000375652.1:n.-143C>A
ENST00000391773.5:c.-143C>A	ENSP00000375653.1:n.-143C>A
ENST00000391775.7:c.-143C>A	ENSP00000375655.3:n.-143C>A
NM_001277126.1:c.-143C>A	NP_001264055.1:n.-143C>A
NM_001277129.1:c.-143C>A	NP_001264058.1:n.-143C>A
NM_144687.3:c.-143C>A	NP_653288.1:n.-143C>A
XM_011527478.1:c.-143C>A	XP_011525780.1:n.-143C>A
XM_011527479.1:c.-143C>A	XP_011525781.1:n.-143C>A
XM_011527480.1:c.-143C>A	XP_011525782.1:n.-143C>A
XM_011527481.1:c.-143C>A	XP_011525783.1:n.-143C>A
XM_011527482.1:c.-143C>A	XP_011525784.1:n.-143C>A
XM_011527483.1:c.-143C>A	XP_011525785.1:n.-143C>A
XM_017027460.1:c.-143C>A	XP_016882949.1:n.-143C>A
XM_017027461.1:c.-143C>A	XP_016882950.1:n.-143C>A
XM_017027462.1:c.-143C>A	XP_016882951.1:n.-143C>A