Canonical Allele Identifier: CA362036819

Gene: IL12B

Linked Data

• dbSNP Id: rs1253573493
• gnomAD v3: 5-159323283-C-A
• gnomAD v4: 5-159323283-C-A
• MyVariant Identifiers: chr5:g.158750291C>A (hg19) ; chr5:g.159323283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323283C>A , CM000667.2:g.159323283C>A	GRCh38
NC_000005.9:g.158750291C>A , CM000667.1:g.158750291C>A	GRCh37
NC_000005.8:g.158682869C>A	NCBI36
NG_009618.1:g.12191G>T , LRG_71:g.12191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2763G>T	ENSP00000512849.1:n.-148-2763G>T
ENST00000696751.1:c.135G>T	ENSP00000512850.1:p.Met45Ile
ENST00000231228.3:c.135G>T MANE Select	ENSP00000231228.2:p.Met45Ile
ENST00000231228.2:c.135G>T	ENSP00000231228.2:p.Met45Ile
NM_002187.2:c.135G>T , LRG_71t1:c.135G>T	NP_002178.2:p.Met45Ile
XR_001742945.1:n.148-2251C>A
NM_002187.3:c.135G>T MANE Select	NP_002178.2:p.Met45Ile