Canonical Allele Identifier: CA129827788

Gene: IL12B

Linked Data

• dbSNP Id: rs1016610724
• gnomAD v3: 5-159321963-C-T
• gnomAD v4: 5-159321963-C-T
• MyVariant Identifiers: chr5:g.158748971C>T (hg19) ; chr5:g.159321963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159321963C>T , CM000667.2:g.159321963C>T	GRCh38
NC_000005.9:g.158748971C>T , CM000667.1:g.158748971C>T	GRCh37
NC_000005.8:g.158681549C>T	NCBI36
NG_009618.1:g.13511G>A , LRG_71:g.13511G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.-148-1443G>A	ENSP00000512849.1:n.-148-1443G>A
ENST00000696751.1:c.364+1091G>A	ENSP00000512850.1:n.364+1091G>A
ENST00000231228.3:c.482+431G>A MANE Select	ENSP00000231228.2:n.482+431G>A
ENST00000231228.2:c.482+431G>A	ENSP00000231228.2:n.482+431G>A
NM_002187.2:c.482+431G>A , LRG_71t1:c.482+431G>A	NP_002178.2:n.482+431G>A
XR_001742945.1:n.147+1367C>T
NM_002187.3:c.482+431G>A MANE Select	NP_002178.2:n.482+431G>A