Canonical Allele Identifier: CA9304957

Gene: IL12RB1

Linked Data

• dbSNP Id: rs772685678
• ExAC: 19:18180416 C / A
• gnomAD v2: 19-18180416-C-A
• gnomAD v4: 19-18069606-C-A
• MyVariant Identifiers: chr19:g.18180416C>A (hg19) ; chr19:g.18069606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069606C>A , CM000681.2:g.18069606C>A	GRCh38
NC_000019.9:g.18180416C>A , CM000681.1:g.18180416C>A	GRCh37
NC_000019.8:g.18041416C>A	NCBI36
NG_007366.2:g.34344G>T , LRG_72:g.34344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1129G>T MANE Select	ENSP00000472165.2:p.Asp377Tyr
ENST00000593993.6:c.1129G>T	ENSP00000472165.2:p.Asp377Tyr
ENST00000600835.6:c.1129G>T	ENSP00000470788.1:p.Asp377Tyr
NM_001290023.1:c.1129G>T	NP_001276952.1:p.Asp377Tyr
NM_001290024.1:c.1249G>T	NP_001276953.1:p.Asp417Tyr
NM_005535.2:c.1129G>T	NP_005526.1:p.Asp377Tyr
XM_006722741.2:c.1249G>T	XP_006722804.2:p.Asp417Tyr
XM_011527966.1:c.1282G>T	XP_011526268.1:p.Asp428Tyr
XM_011527967.1:c.1270G>T	XP_011526269.1:p.Asp424Tyr
XM_011527968.1:c.1261G>T	XP_011526270.1:p.Asp421Tyr
XM_011527969.1:c.1249G>T	XP_011526271.1:p.Asp417Tyr
XM_011527970.1:c.1282G>T	XP_011526272.1:p.Asp428Tyr
XM_011527971.1:c.1282G>T	XP_011526273.1:p.Asp428Tyr
XM_011527972.1:c.1282G>T	XP_011526274.1:p.Asp428Tyr
XM_011527973.1:c.1162G>T	XP_011526275.1:p.Asp388Tyr
XM_011527974.1:c.1150G>T	XP_011526276.1:p.Asp384Tyr
XM_011527975.1:c.1249G>T	XP_011526277.1:p.Asp417Tyr
XM_011527976.1:c.1282G>T	XP_011526278.1:p.Asp428Tyr
XM_006722741.3:c.1249G>T	XP_006722804.2:p.Asp417Tyr
XM_011527966.2:c.1282G>T	XP_011526268.1:p.Asp428Tyr
XM_011527967.2:c.1270G>T	XP_011526269.1:p.Asp424Tyr
XM_011527968.3:c.1261G>T	XP_011526270.1:p.Asp421Tyr
XM_011527969.2:c.1249G>T	XP_011526271.1:p.Asp417Tyr
XM_011527970.2:c.1282G>T	XP_011526272.1:p.Asp428Tyr
XM_011527971.3:c.1282G>T	XP_011526273.1:p.Asp428Tyr
XM_011527972.3:c.1282G>T	XP_011526274.1:p.Asp428Tyr
XM_011527973.2:c.1162G>T	XP_011526275.1:p.Asp388Tyr
XM_011527974.2:c.1150G>T	XP_011526276.1:p.Asp384Tyr
XM_011527975.2:c.1249G>T	XP_011526277.1:p.Asp417Tyr
XM_011527976.2:c.1282G>T	XP_011526278.1:p.Asp428Tyr
XM_017026762.1:c.547G>T	XP_016882251.1:p.Asp183Tyr
NM_001290023.2:c.1129G>T	NP_001276952.1:p.Asp377Tyr
NM_005535.3:c.1129G>T MANE Select	NP_005526.1:p.Asp377Tyr