Canonical Allele Identifier: CA129826815

Gene: IL12B

Linked Data

• dbSNP Id: rs960228537
• gnomAD v4: 5-159320399-C-A
• MyVariant Identifiers: chr5:g.158747407C>A (hg19) ; chr5:g.159320399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159320399C>A , CM000667.2:g.159320399C>A	GRCh38
NC_000005.9:g.158747407C>A , CM000667.1:g.158747407C>A	GRCh37
NC_000005.8:g.158679985C>A	NCBI36
NG_009618.1:g.15075G>T , LRG_71:g.15075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-27G>T	ENSP00000512849.1:n.-27G>T
ENST00000696751.1:c.*99G>T	ENSP00000512850.1:n.*99G>T
ENST00000231228.3:c.604G>T MANE Select	ENSP00000231228.2:p.Ala202Ser
ENST00000231228.2:c.604G>T	ENSP00000231228.2:p.Ala202Ser
NM_002187.2:c.604G>T , LRG_71t1:c.604G>T	NP_002178.2:p.Ala202Ser
NM_002187.3:c.604G>T MANE Select	NP_002178.2:p.Ala202Ser