Canonical Allele Identifier: CA404774992

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18059948-C-A
• MyVariant Identifiers: chr19:g.18170758C>A (hg19) ; chr19:g.18059948C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059948C>A , CM000681.2:g.18059948C>A	GRCh38
NC_000019.9:g.18170758C>A , CM000681.1:g.18170758C>A	GRCh37
NC_000019.8:g.18031758C>A	NCBI36
NG_007366.2:g.44002G>T , LRG_72:g.44002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1929G>T MANE Select	ENSP00000472165.2:p.Glu643Asp
ENST00000593993.6:c.1929G>T	ENSP00000472165.2:p.Glu643Asp
ENST00000600835.6:c.1929G>T	ENSP00000470788.1:p.Glu643Asp
NM_001290023.1:c.1929G>T	NP_001276952.1:p.Glu643Asp
NM_001290024.1:c.2049G>T	NP_001276953.1:p.Glu683Asp
NM_005535.2:c.1929G>T	NP_005526.1:p.Glu643Asp
XM_006722741.2:c.2049G>T	XP_006722804.2:p.Glu683Asp
XM_011527966.1:c.2082G>T	XP_011526268.1:p.Glu694Asp
XM_011527967.1:c.2070G>T	XP_011526269.1:p.Glu690Asp
XM_011527968.1:c.2061G>T	XP_011526270.1:p.Glu687Asp
XM_011527969.1:c.2049G>T	XP_011526271.1:p.Glu683Asp
XM_011527970.1:c.2082G>T	XP_011526272.1:p.Glu694Asp
XM_011527971.1:c.2082G>T	XP_011526273.1:p.Glu694Asp
XM_011527972.1:c.2082G>T	XP_011526274.1:p.Glu694Asp
XM_011527973.1:c.1962G>T	XP_011526275.1:p.Glu654Asp
XM_011527974.1:c.1950G>T	XP_011526276.1:p.Glu650Asp
XM_011527975.1:c.2049G>T	XP_011526277.1:p.Glu683Asp
XM_006722741.3:c.2049G>T	XP_006722804.2:p.Glu683Asp
XM_011527966.2:c.2082G>T	XP_011526268.1:p.Glu694Asp
XM_011527967.2:c.2070G>T	XP_011526269.1:p.Glu690Asp
XM_011527968.3:c.2061G>T	XP_011526270.1:p.Glu687Asp
XM_011527969.2:c.2049G>T	XP_011526271.1:p.Glu683Asp
XM_011527970.2:c.2082G>T	XP_011526272.1:p.Glu694Asp
XM_011527971.3:c.2082G>T	XP_011526273.1:p.Glu694Asp
XM_011527972.3:c.2082G>T	XP_011526274.1:p.Glu694Asp
XM_011527973.2:c.1962G>T	XP_011526275.1:p.Glu654Asp
XM_011527974.2:c.1950G>T	XP_011526276.1:p.Glu650Asp
XM_011527975.2:c.2049G>T	XP_011526277.1:p.Glu683Asp
XM_017026762.1:c.1347G>T	XP_016882251.1:p.Glu449Asp
NM_001290023.2:c.1929G>T	NP_001276952.1:p.Glu643Asp
NM_005535.3:c.1929G>T MANE Select	NP_005526.1:p.Glu643Asp