Canonical Allele Identifier: CA447681179

Gene: IL12B

Linked Data

• dbSNP Id: rs751689646
• gnomAD v4: 5-159323133-C-T
• MyVariant Identifiers: chr5:g.158750141C>T (hg19) ; chr5:g.159323133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323133C>T , CM000667.2:g.159323133C>T	GRCh38
NC_000005.9:g.158750141C>T , CM000667.1:g.158750141C>T	GRCh37
NC_000005.8:g.158682719C>T	NCBI36
NG_009618.1:g.12341G>A , LRG_71:g.12341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2613G>A	ENSP00000512849.1:n.-148-2613G>A
ENST00000696751.1:c.285G>A	ENSP00000512850.1:p.Glu95=
ENST00000231228.3:c.285G>A MANE Select	ENSP00000231228.2:p.Glu95=
ENST00000231228.2:c.285G>A	ENSP00000231228.2:p.Glu95=
NM_002187.2:c.285G>A , LRG_71t1:c.285G>A	NP_002178.2:p.Glu95=
XR_001742945.1:n.148-2401C>T
NM_002187.3:c.285G>A MANE Select	NP_002178.2:p.Glu95=