Canonical Allele Identifier: CA404775267

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18060010-A-C
• MyVariant Identifiers: chr19:g.18170820A>C (hg19) ; chr19:g.18060010A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18060010A>C , CM000681.2:g.18060010A>C	GRCh38
NC_000019.9:g.18170820A>C , CM000681.1:g.18170820A>C	GRCh37
NC_000019.8:g.18031820A>C	NCBI36
NG_007366.2:g.43940T>G , LRG_72:g.43940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1867T>G MANE Select	ENSP00000472165.2:p.Trp623Gly
ENST00000593993.6:c.1867T>G	ENSP00000472165.2:p.Trp623Gly
ENST00000600835.6:c.1867T>G	ENSP00000470788.1:p.Trp623Gly
NM_001290023.1:c.1867T>G	NP_001276952.1:p.Trp623Gly
NM_001290024.1:c.1987T>G	NP_001276953.1:p.Trp663Gly
NM_005535.2:c.1867T>G	NP_005526.1:p.Trp623Gly
XM_006722741.2:c.1987T>G	XP_006722804.2:p.Trp663Gly
XM_011527966.1:c.2020T>G	XP_011526268.1:p.Trp674Gly
XM_011527967.1:c.2008T>G	XP_011526269.1:p.Trp670Gly
XM_011527968.1:c.1999T>G	XP_011526270.1:p.Trp667Gly
XM_011527969.1:c.1987T>G	XP_011526271.1:p.Trp663Gly
XM_011527970.1:c.2020T>G	XP_011526272.1:p.Trp674Gly
XM_011527971.1:c.2020T>G	XP_011526273.1:p.Trp674Gly
XM_011527972.1:c.2020T>G	XP_011526274.1:p.Trp674Gly
XM_011527973.1:c.1900T>G	XP_011526275.1:p.Trp634Gly
XM_011527974.1:c.1888T>G	XP_011526276.1:p.Trp630Gly
XM_011527975.1:c.1987T>G	XP_011526277.1:p.Trp663Gly
XM_006722741.3:c.1987T>G	XP_006722804.2:p.Trp663Gly
XM_011527966.2:c.2020T>G	XP_011526268.1:p.Trp674Gly
XM_011527967.2:c.2008T>G	XP_011526269.1:p.Trp670Gly
XM_011527968.3:c.1999T>G	XP_011526270.1:p.Trp667Gly
XM_011527969.2:c.1987T>G	XP_011526271.1:p.Trp663Gly
XM_011527970.2:c.2020T>G	XP_011526272.1:p.Trp674Gly
XM_011527971.3:c.2020T>G	XP_011526273.1:p.Trp674Gly
XM_011527972.3:c.2020T>G	XP_011526274.1:p.Trp674Gly
XM_011527973.2:c.1900T>G	XP_011526275.1:p.Trp634Gly
XM_011527974.2:c.1888T>G	XP_011526276.1:p.Trp630Gly
XM_011527975.2:c.1987T>G	XP_011526277.1:p.Trp663Gly
XM_017026762.1:c.1285T>G	XP_016882251.1:p.Trp429Gly
NM_001290023.2:c.1867T>G	NP_001276952.1:p.Trp623Gly
NM_005535.3:c.1867T>G MANE Select	NP_005526.1:p.Trp623Gly