Canonical Allele Identifier: CA9639794

Gene: NLRP12

Linked Data

• ClinVar Variation Id: 330046
• ClinVar RCV Id: RCV000303868
• dbSNP Id: rs776591533
• ExAC: 19:54327127 G / A
• gnomAD v2: 19-54327127-G-A
• gnomAD v4: 19-53823873-G-A
• MyVariant Identifiers: chr19:g.54327127G>A (hg19) ; chr19:g.53823873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53823873G>A , CM000681.2:g.53823873G>A	GRCh38
NC_000019.9:g.54327127G>A , CM000681.1:g.54327127G>A	GRCh37
NC_000019.8:g.59018939G>A	NCBI36
NG_008651.1:g.5522C>T
NG_008651.2:g.5522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391773.7:c.289+13C>T	ENSP00000375653.1:n.289+13C>T
ENST00000324134.11:c.289+13C>T MANE Select	ENSP00000319377.6:n.289+13C>T
ENST00000391773.6:c.289+13C>T	ENSP00000375653.1:n.289+13C>T
ENST00000324134.10:c.289+13C>T	ENSP00000319377.6:n.289+13C>T
ENST00000345770.9:c.289+13C>T	ENSP00000341428.5:n.289+13C>T
ENST00000391772.1:c.289+13C>T	ENSP00000375652.1:n.289+13C>T
ENST00000391773.5:c.289+13C>T	ENSP00000375653.1:n.289+13C>T
ENST00000391775.7:c.289+13C>T	ENSP00000375655.3:n.289+13C>T
NM_001277126.1:c.289+13C>T	NP_001264055.1:n.289+13C>T
NM_001277129.1:c.289+13C>T	NP_001264058.1:n.289+13C>T
NM_144687.3:c.289+13C>T	NP_653288.1:n.289+13C>T
XM_011527478.1:c.121+181C>T	XP_011525780.1:n.121+181C>T
XM_011527479.1:c.289+13C>T	XP_011525781.1:n.289+13C>T
XM_011527480.1:c.289+13C>T	XP_011525782.1:n.289+13C>T
XM_011527481.1:c.289+13C>T	XP_011525783.1:n.289+13C>T
XM_011527482.1:c.289+13C>T	XP_011525784.1:n.289+13C>T
XM_011527483.1:c.289+13C>T	XP_011525785.1:n.289+13C>T
XM_017027460.1:c.289+13C>T	XP_016882949.1:n.289+13C>T
XM_017027461.1:c.289+13C>T	XP_016882950.1:n.289+13C>T
XM_017027462.1:c.289+13C>T	XP_016882951.1:n.289+13C>T
XM_017027463.1:c.-338+13C>T	XP_016882952.1:n.-338+13C>T
XM_017027464.1:c.-129+20C>T	XP_016882953.1:n.-129+20C>T
XM_017027465.1:c.-338+20C>T	XP_016882954.1:n.-338+20C>T
NM_001277126.2:c.289+13C>T	NP_001264055.1:n.289+13C>T
NM_144687.4:c.289+13C>T MANE Select	NP_653288.1:n.289+13C>T