Canonical Allele Identifier: CA362037050

Gene: IL12B

Linked Data

• gnomAD v4: 5-159323317-T-C
• MyVariant Identifiers: chr5:g.158750325T>C (hg19) ; chr5:g.159323317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323317T>C , CM000667.2:g.159323317T>C	GRCh38
NC_000005.9:g.158750325T>C , CM000667.1:g.158750325T>C	GRCh37
NC_000005.8:g.158682903T>C	NCBI36
NG_009618.1:g.12157A>G , LRG_71:g.12157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2797A>G	ENSP00000512849.1:n.-148-2797A>G
ENST00000696751.1:c.101A>G	ENSP00000512850.1:p.Glu34Gly
ENST00000231228.3:c.101A>G MANE Select	ENSP00000231228.2:p.Glu34Gly
ENST00000231228.2:c.101A>G	ENSP00000231228.2:p.Glu34Gly
NM_002187.2:c.101A>G , LRG_71t1:c.101A>G	NP_002178.2:p.Glu34Gly
XR_001742945.1:n.148-2217T>C
NM_002187.3:c.101A>G MANE Select	NP_002178.2:p.Glu34Gly