Canonical Allele Identifier: CA404778514

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18069570-G-T
• MyVariant Identifiers: chr19:g.18180380G>T (hg19) ; chr19:g.18069570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069570G>T , CM000681.2:g.18069570G>T	GRCh38
NC_000019.9:g.18180380G>T , CM000681.1:g.18180380G>T	GRCh37
NC_000019.8:g.18041380G>T	NCBI36
NG_007366.2:g.34380C>A , LRG_72:g.34380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1165C>A MANE Select	ENSP00000472165.2:p.Gln389Lys
ENST00000593993.6:c.1165C>A	ENSP00000472165.2:p.Gln389Lys
ENST00000600835.6:c.1165C>A	ENSP00000470788.1:p.Gln389Lys
NM_001290023.1:c.1165C>A	NP_001276952.1:p.Gln389Lys
NM_001290024.1:c.1285C>A	NP_001276953.1:p.Gln429Lys
NM_005535.2:c.1165C>A	NP_005526.1:p.Gln389Lys
XM_006722741.2:c.1285C>A	XP_006722804.2:p.Gln429Lys
XM_011527966.1:c.1318C>A	XP_011526268.1:p.Gln440Lys
XM_011527967.1:c.1306C>A	XP_011526269.1:p.Gln436Lys
XM_011527968.1:c.1297C>A	XP_011526270.1:p.Gln433Lys
XM_011527969.1:c.1285C>A	XP_011526271.1:p.Gln429Lys
XM_011527970.1:c.1318C>A	XP_011526272.1:p.Gln440Lys
XM_011527971.1:c.1318C>A	XP_011526273.1:p.Gln440Lys
XM_011527972.1:c.1318C>A	XP_011526274.1:p.Gln440Lys
XM_011527973.1:c.1198C>A	XP_011526275.1:p.Gln400Lys
XM_011527974.1:c.1186C>A	XP_011526276.1:p.Gln396Lys
XM_011527975.1:c.1285C>A	XP_011526277.1:p.Gln429Lys
XM_011527976.1:c.1318C>A	XP_011526278.1:p.Gln440Lys
XM_006722741.3:c.1285C>A	XP_006722804.2:p.Gln429Lys
XM_011527966.2:c.1318C>A	XP_011526268.1:p.Gln440Lys
XM_011527967.2:c.1306C>A	XP_011526269.1:p.Gln436Lys
XM_011527968.3:c.1297C>A	XP_011526270.1:p.Gln433Lys
XM_011527969.2:c.1285C>A	XP_011526271.1:p.Gln429Lys
XM_011527970.2:c.1318C>A	XP_011526272.1:p.Gln440Lys
XM_011527971.3:c.1318C>A	XP_011526273.1:p.Gln440Lys
XM_011527972.3:c.1318C>A	XP_011526274.1:p.Gln440Lys
XM_011527973.2:c.1198C>A	XP_011526275.1:p.Gln400Lys
XM_011527974.2:c.1186C>A	XP_011526276.1:p.Gln396Lys
XM_011527975.2:c.1285C>A	XP_011526277.1:p.Gln429Lys
XM_011527976.2:c.1318C>A	XP_011526278.1:p.Gln440Lys
XM_017026762.1:c.583C>A	XP_016882251.1:p.Gln195Lys
NM_001290023.2:c.1165C>A	NP_001276952.1:p.Gln389Lys
NM_005535.3:c.1165C>A MANE Select	NP_005526.1:p.Gln389Lys