Canonical Allele Identifier: CA404774724

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18059898-G-A
• MyVariant Identifiers: chr19:g.18170708G>A (hg19) ; chr19:g.18059898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059898G>A , CM000681.2:g.18059898G>A	GRCh38
NC_000019.9:g.18170708G>A , CM000681.1:g.18170708G>A	GRCh37
NC_000019.8:g.18031708G>A	NCBI36
NG_007366.2:g.44052C>T , LRG_72:g.44052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1979C>T MANE Select	ENSP00000472165.2:p.Ala660Val
ENST00000593993.6:c.1979C>T	ENSP00000472165.2:p.Ala660Val
ENST00000600835.6:c.1979C>T	ENSP00000470788.1:p.Ala660Val
NM_001290023.1:c.1970+9C>T	NP_001276952.1:n.1970+9C>T
NM_001290024.1:c.2099C>T	NP_001276953.1:p.Ala700Val
NM_005535.2:c.1979C>T	NP_005526.1:p.Ala660Val
XM_006722741.2:c.2099C>T	XP_006722804.2:p.Ala700Val
XM_011527966.1:c.2123+9C>T	XP_011526268.1:n.2123+9C>T
XM_011527967.1:c.2111+9C>T	XP_011526269.1:n.2111+9C>T
XM_011527968.1:c.2102+9C>T	XP_011526270.1:n.2102+9C>T
XM_011527969.1:c.2090+9C>T	XP_011526271.1:n.2090+9C>T
XM_011527970.1:c.2132C>T	XP_011526272.1:p.Ala711Val
XM_011527971.1:c.2132C>T	XP_011526273.1:p.Ala711Val
XM_011527972.1:c.2123+9C>T	XP_011526274.1:n.2123+9C>T
XM_011527973.1:c.2003+9C>T	XP_011526275.1:n.2003+9C>T
XM_011527974.1:c.1991+9C>T	XP_011526276.1:n.1991+9C>T
XM_011527975.1:c.2090+9C>T	XP_011526277.1:n.2090+9C>T
XM_006722741.3:c.2099C>T	XP_006722804.2:p.Ala700Val
XM_011527966.2:c.2123+9C>T	XP_011526268.1:n.2123+9C>T
XM_011527967.2:c.2111+9C>T	XP_011526269.1:n.2111+9C>T
XM_011527968.3:c.2102+9C>T	XP_011526270.1:n.2102+9C>T
XM_011527969.2:c.2090+9C>T	XP_011526271.1:n.2090+9C>T
XM_011527970.2:c.2132C>T	XP_011526272.1:p.Ala711Val
XM_011527971.3:c.2132C>T	XP_011526273.1:p.Ala711Val
XM_011527972.3:c.2123+9C>T	XP_011526274.1:n.2123+9C>T
XM_011527973.2:c.2003+9C>T	XP_011526275.1:n.2003+9C>T
XM_011527974.2:c.1991+9C>T	XP_011526276.1:n.1991+9C>T
XM_011527975.2:c.2090+9C>T	XP_011526277.1:n.2090+9C>T
XM_017026762.1:c.1388+9C>T	XP_016882251.1:n.1388+9C>T
NM_001290023.2:c.1970+9C>T	NP_001276952.1:n.1970+9C>T
NM_005535.3:c.1979C>T MANE Select	NP_005526.1:p.Ala660Val