Canonical Allele Identifier: CA1397750946

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993680T= , CM000665.2:g.121993680T=	GRCh38
NC_000003.11:g.121712527T= , CM000665.1:g.121712527T=	GRCh37
NC_000003.10:g.123195217T=	NCBI36
NG_031870.1:g.33601A=
NG_031870.2:g.71875A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1069A= MANE Select	ENSP00000345667.5:p.Ile357=
ENST00000460554.2:n.1019A=
ENST00000642615.1:c.*252A=	ENSP00000495499.1:n.*252A=
ENST00000273691.7:c.937A=	ENSP00000273691.3:p.Ile313=
ENST00000344209.9:c.1069A=	ENSP00000345667.5:p.Ile357=
ENST00000393631.5:c.802A=	ENSP00000377251.1:p.Ile268=
ENST00000460554.1:n.1171A=
ENST00000462014.1:c.973A=	ENSP00000419414.1:p.Ile325=
NM_001199799.1:c.1069A=	NP_001186728.1:p.Ile357=
NM_001199800.1:c.802A=	NP_001186729.1:p.Ile268=
NM_175924.3:c.937A=	NP_787120.1:p.Ile313=
XM_005247389.3:c.973A=	XP_005247446.1:p.Ile325=
XM_011512738.1:c.1069A=	XP_011511040.1:p.Ile357=
XM_011512739.1:c.532A=	XP_011511041.1:p.Ile178=
XM_005247389.4:c.973A=	XP_005247446.1:p.Ile325=
XM_011512738.2:c.1069A=	XP_011511040.1:p.Ile357=
XM_011512739.2:c.532A=	XP_011511041.1:p.Ile178=
NM_001199799.2:c.1069A= MANE Select	NP_001186728.1:p.Ile357=
NM_001199800.2:c.802A=	NP_001186729.1:p.Ile268=
NM_175924.4:c.937A=	NP_787120.1:p.Ile313=