Canonical Allele Identifier: CA404779064

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18069691-G-T
• MyVariant Identifiers: chr19:g.18180501G>T (hg19) ; chr19:g.18069691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069691G>T , CM000681.2:g.18069691G>T	GRCh38
NC_000019.9:g.18180501G>T , CM000681.1:g.18180501G>T	GRCh37
NC_000019.8:g.18041501G>T	NCBI36
NG_007366.2:g.34259C>A , LRG_72:g.34259C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1044C>A MANE Select	ENSP00000472165.2:p.Ser348Arg
ENST00000593993.6:c.1044C>A	ENSP00000472165.2:p.Ser348Arg
ENST00000600835.6:c.1044C>A	ENSP00000470788.1:p.Ser348Arg
NM_001290023.1:c.1044C>A	NP_001276952.1:p.Ser348Arg
NM_001290024.1:c.1164C>A	NP_001276953.1:p.Ser388Arg
NM_005535.2:c.1044C>A	NP_005526.1:p.Ser348Arg
XM_006722741.2:c.1164C>A	XP_006722804.2:p.Ser388Arg
XM_011527966.1:c.1197C>A	XP_011526268.1:p.Ser399Arg
XM_011527967.1:c.1185C>A	XP_011526269.1:p.Ser395Arg
XM_011527968.1:c.1176C>A	XP_011526270.1:p.Ser392Arg
XM_011527969.1:c.1164C>A	XP_011526271.1:p.Ser388Arg
XM_011527970.1:c.1197C>A	XP_011526272.1:p.Ser399Arg
XM_011527971.1:c.1197C>A	XP_011526273.1:p.Ser399Arg
XM_011527972.1:c.1197C>A	XP_011526274.1:p.Ser399Arg
XM_011527973.1:c.1077C>A	XP_011526275.1:p.Ser359Arg
XM_011527974.1:c.1065C>A	XP_011526276.1:p.Ser355Arg
XM_011527975.1:c.1164C>A	XP_011526277.1:p.Ser388Arg
XM_011527976.1:c.1197C>A	XP_011526278.1:p.Ser399Arg
XM_006722741.3:c.1164C>A	XP_006722804.2:p.Ser388Arg
XM_011527966.2:c.1197C>A	XP_011526268.1:p.Ser399Arg
XM_011527967.2:c.1185C>A	XP_011526269.1:p.Ser395Arg
XM_011527968.3:c.1176C>A	XP_011526270.1:p.Ser392Arg
XM_011527969.2:c.1164C>A	XP_011526271.1:p.Ser388Arg
XM_011527970.2:c.1197C>A	XP_011526272.1:p.Ser399Arg
XM_011527971.3:c.1197C>A	XP_011526273.1:p.Ser399Arg
XM_011527972.3:c.1197C>A	XP_011526274.1:p.Ser399Arg
XM_011527973.2:c.1077C>A	XP_011526275.1:p.Ser359Arg
XM_011527974.2:c.1065C>A	XP_011526276.1:p.Ser355Arg
XM_011527975.2:c.1164C>A	XP_011526277.1:p.Ser388Arg
XM_011527976.2:c.1197C>A	XP_011526278.1:p.Ser399Arg
XM_017026762.1:c.462C>A	XP_016882251.1:p.Ser154Arg
NM_001290023.2:c.1044C>A	NP_001276952.1:p.Ser348Arg
NM_005535.3:c.1044C>A MANE Select	NP_005526.1:p.Ser348Arg