Canonical Allele Identifier: CA2572646783
Community Standard Title: NM_144687.4(NLRP12):c.370+549G>A
Gene: NLRP12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53814359C>T , CM000681.2:g.53814359C>T GRCh38
NC_000019.9:g.54317613C>T , CM000681.1:g.54317613C>T GRCh37
NC_000019.8:g.59009425C>T NCBI36
NG_008651.1:g.15036G>A
NG_008651.2:g.15036G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144687.4:c.370+549G>A MANE Select NP_653288.1:n.370+549G>A
ENST00000324134.11:c.370+549G>A MANE Select ENSP00000319377.6:n.370+549G>A
NM_001277126.1:c.370+549G>A NP_001264055.1:n.370+549G>A
NM_001277126.2:c.370+549G>A NP_001264055.1:n.370+549G>A
NM_001277129.1:c.370+549G>A NP_001264058.1:n.370+549G>A
NM_144687.3:c.370+549G>A NP_653288.1:n.370+549G>A
ENST00000324134.10:c.370+549G>A ENSP00000319377.6:n.370+549G>A
ENST00000345770.9:c.370+549G>A ENSP00000341428.5:n.370+549G>A
ENST00000391772.1:c.370+549G>A ENSP00000375652.1:n.370+549G>A
ENST00000391773.5:c.370+549G>A ENSP00000375653.1:n.370+549G>A
ENST00000391773.6:c.370+549G>A ENSP00000375653.1:n.370+549G>A
ENST00000391773.7:c.370+549G>A ENSP00000375653.1:n.370+549G>A
ENST00000391775.7:c.370+549G>A ENSP00000375655.3:n.370+549G>A
XM_011527478.1:c.202+549G>A XP_011525780.1:n.202+549G>A
XM_011527479.1:c.370+549G>A XP_011525781.1:n.370+549G>A
XM_011527480.1:c.370+549G>A XP_011525782.1:n.370+549G>A
XM_011527481.1:c.370+549G>A XP_011525783.1:n.370+549G>A
XM_011527482.1:c.370+549G>A XP_011525784.1:n.370+549G>A
XM_011527483.1:c.370+549G>A XP_011525785.1:n.370+549G>A
XM_017027460.1:c.370+549G>A XP_016882949.1:n.370+549G>A
XM_017027461.1:c.370+549G>A XP_016882950.1:n.370+549G>A
XM_017027462.1:c.370+549G>A XP_016882951.1:n.370+549G>A
XM_017027463.1:c.-48+549G>A XP_016882952.1:n.-48+549G>A
XM_017027464.1:c.-48+549G>A XP_016882953.1:n.-48+549G>A
XM_017027465.1:c.-48+549G>A XP_016882954.1:n.-48+549G>A
XM_017027466.1:c.-48+549G>A XP_016882955.1:n.-48+549G>A
XM_017027467.1:c.-48+549G>A XP_016882956.1:n.-48+549G>A