Canonical Allele Identifier: CA404775211
Gene: IL12RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18059998C>G , CM000681.2:g.18059998C>G GRCh38
NC_000019.9:g.18170808C>G , CM000681.1:g.18170808C>G GRCh37
NC_000019.8:g.18031808C>G NCBI36
NG_007366.2:g.43952G>C , LRG_72:g.43952G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593993.7:c.1879G>C MANE Select ENSP00000472165.2:p.Glu627Gln
ENST00000593993.6:c.1879G>C ENSP00000472165.2:p.Glu627Gln
ENST00000600835.6:c.1879G>C ENSP00000470788.1:p.Glu627Gln
NM_001290023.1:c.1879G>C NP_001276952.1:p.Glu627Gln
NM_001290024.1:c.1999G>C NP_001276953.1:p.Glu667Gln
NM_005535.2:c.1879G>C NP_005526.1:p.Glu627Gln
XM_006722741.2:c.1999G>C XP_006722804.2:p.Glu667Gln
XM_011527966.1:c.2032G>C XP_011526268.1:p.Glu678Gln
XM_011527967.1:c.2020G>C XP_011526269.1:p.Glu674Gln
XM_011527968.1:c.2011G>C XP_011526270.1:p.Glu671Gln
XM_011527969.1:c.1999G>C XP_011526271.1:p.Glu667Gln
XM_011527970.1:c.2032G>C XP_011526272.1:p.Glu678Gln
XM_011527971.1:c.2032G>C XP_011526273.1:p.Glu678Gln
XM_011527972.1:c.2032G>C XP_011526274.1:p.Glu678Gln
XM_011527973.1:c.1912G>C XP_011526275.1:p.Glu638Gln
XM_011527974.1:c.1900G>C XP_011526276.1:p.Glu634Gln
XM_011527975.1:c.1999G>C XP_011526277.1:p.Glu667Gln
XM_006722741.3:c.1999G>C XP_006722804.2:p.Glu667Gln
XM_011527966.2:c.2032G>C XP_011526268.1:p.Glu678Gln
XM_011527967.2:c.2020G>C XP_011526269.1:p.Glu674Gln
XM_011527968.3:c.2011G>C XP_011526270.1:p.Glu671Gln
XM_011527969.2:c.1999G>C XP_011526271.1:p.Glu667Gln
XM_011527970.2:c.2032G>C XP_011526272.1:p.Glu678Gln
XM_011527971.3:c.2032G>C XP_011526273.1:p.Glu678Gln
XM_011527972.3:c.2032G>C XP_011526274.1:p.Glu678Gln
XM_011527973.2:c.1912G>C XP_011526275.1:p.Glu638Gln
XM_011527974.2:c.1900G>C XP_011526276.1:p.Glu634Gln
XM_011527975.2:c.1999G>C XP_011526277.1:p.Glu667Gln
XM_017026762.1:c.1297G>C XP_016882251.1:p.Glu433Gln
NM_001290023.2:c.1879G>C NP_001276952.1:p.Glu627Gln
NM_005535.3:c.1879G>C MANE Select NP_005526.1:p.Glu627Gln