Canonical Allele Identifier: CA1397750963

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993715G= , CM000665.2:g.121993715G=	GRCh38
NC_000003.11:g.121712562G= , CM000665.1:g.121712562G=	GRCh37
NC_000003.10:g.123195252G=	NCBI36
NG_031870.1:g.33566C=
NG_031870.2:g.71840C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1034C= MANE Select	ENSP00000345667.5:p.Thr345=
ENST00000460554.2:n.984C=
ENST00000642615.1:c.*217C=	ENSP00000495499.1:n.*217C=
ENST00000273691.7:c.902C=	ENSP00000273691.3:p.Thr301=
ENST00000344209.9:c.1034C=	ENSP00000345667.5:p.Thr345=
ENST00000393631.5:c.767C=	ENSP00000377251.1:p.Thr256=
ENST00000460554.1:n.1136C=
ENST00000462014.1:c.938C=	ENSP00000419414.1:p.Thr313=
NM_001199799.1:c.1034C=	NP_001186728.1:p.Thr345=
NM_001199800.1:c.767C=	NP_001186729.1:p.Thr256=
NM_175924.3:c.902C=	NP_787120.1:p.Thr301=
XM_005247389.3:c.938C=	XP_005247446.1:p.Thr313=
XM_011512738.1:c.1034C=	XP_011511040.1:p.Thr345=
XM_011512739.1:c.497C=	XP_011511041.1:p.Thr166=
XM_005247389.4:c.938C=	XP_005247446.1:p.Thr313=
XM_011512738.2:c.1034C=	XP_011511040.1:p.Thr345=
XM_011512739.2:c.497C=	XP_011511041.1:p.Thr166=
NM_001199799.2:c.1034C= MANE Select	NP_001186728.1:p.Thr345=
NM_001199800.2:c.767C=	NP_001186729.1:p.Thr256=
NM_175924.4:c.902C=	NP_787120.1:p.Thr301=