Canonical Allele Identifier: CA362034809
Gene: IL12B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323072T>G , CM000667.2:g.159323072T>G GRCh38
NC_000005.9:g.158750080T>G , CM000667.1:g.158750080T>G GRCh37
NC_000005.8:g.158682658T>G NCBI36
NG_009618.1:g.12402A>C , LRG_71:g.12402A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2552A>C ENSP00000512849.1:n.-148-2552A>C
ENST00000696751.1:c.346A>C ENSP00000512850.1:p.Ile116Leu
ENST00000231228.3:c.346A>C MANE Select ENSP00000231228.2:p.Ile116Leu
ENST00000231228.2:c.346A>C ENSP00000231228.2:p.Ile116Leu
NM_002187.2:c.346A>C , LRG_71t1:c.346A>C NP_002178.2:p.Ile116Leu
XR_001742945.1:n.148-2462T>G
NM_002187.3:c.346A>C MANE Select NP_002178.2:p.Ile116Leu