Canonical Allele Identifier: CA362036312

Gene: IL12B

Linked Data

• dbSNP Id: rs1754130621
• gnomAD v4: 5-159323219-C-T
• MyVariant Identifiers: chr5:g.158750227C>T (hg19) ; chr5:g.159323219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323219C>T , CM000667.2:g.159323219C>T	GRCh38
NC_000005.9:g.158750227C>T , CM000667.1:g.158750227C>T	GRCh37
NC_000005.8:g.158682805C>T	NCBI36
NG_009618.1:g.12255G>A , LRG_71:g.12255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2699G>A	ENSP00000512849.1:n.-148-2699G>A
ENST00000696751.1:c.199G>A	ENSP00000512850.1:p.Glu67Lys
ENST00000231228.3:c.199G>A MANE Select	ENSP00000231228.2:p.Glu67Lys
ENST00000231228.2:c.199G>A	ENSP00000231228.2:p.Glu67Lys
NM_002187.2:c.199G>A , LRG_71t1:c.199G>A	NP_002178.2:p.Glu67Lys
XR_001742945.1:n.148-2315C>T
NM_002187.3:c.199G>A MANE Select	NP_002178.2:p.Glu67Lys