Canonical Allele Identifier: CA806427382

Gene: IL12B

Linked Data

• dbSNP Id: rs1381476692
• gnomAD v3: 5-159315059-C-A
• gnomAD v4: 5-159315059-C-A
• MyVariant Identifiers: chr5:g.158742067C>A (hg19) ; chr5:g.159315059C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159315059C>A , CM000667.2:g.159315059C>A	GRCh38
NC_000005.9:g.158742067C>A , CM000667.1:g.158742067C>A	GRCh37
NC_000005.8:g.158674645C>A	NCBI36
NG_009618.1:g.20415G>T , LRG_71:g.20415G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.*1042G>T	ENSP00000512849.1:n.*1042G>T
ENST00000696751.1:c.*1524G>T	ENSP00000512850.1:n.*1524G>T
ENST00000231228.3:c.*1042G>T MANE Select	ENSP00000231228.2:n.*1042G>T
ENST00000231228.2:c.*1042G>T	ENSP00000231228.2:n.*1042G>T
NM_002187.2:c.*1042G>T , LRG_71t1:c.*1042G>T	NP_002178.2:n.*1042G>T
XR_941138.1:n.364-159C>A
XR_941138.2:n.431-159C>A
NM_002187.3:c.*1042G>T MANE Select	NP_002178.2:n.*1042G>T