Canonical Allele Identifier: CA1397750902

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993587A= , CM000665.2:g.121993587A=	GRCh38
NC_000003.11:g.121712434A= , CM000665.1:g.121712434A=	GRCh37
NC_000003.10:g.123195124A=	NCBI36
NG_031870.1:g.33694T=
NG_031870.2:g.71968T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1162T= MANE Select	ENSP00000345667.5:p.Trp388=
ENST00000460554.2:n.1112T=
ENST00000642615.1:c.*345T=	ENSP00000495499.1:n.*345T=
ENST00000273691.7:c.1030T=	ENSP00000273691.3:p.Trp344=
ENST00000344209.9:c.1162T=	ENSP00000345667.5:p.Trp388=
ENST00000393631.5:c.895T=	ENSP00000377251.1:p.Trp299=
ENST00000460554.1:n.1264T=
ENST00000462014.1:c.1066T=	ENSP00000419414.1:p.Trp356=
NM_001199799.1:c.1162T=	NP_001186728.1:p.Trp388=
NM_001199800.1:c.895T=	NP_001186729.1:p.Trp299=
NM_175924.3:c.1030T=	NP_787120.1:p.Trp344=
XM_005247389.3:c.1066T=	XP_005247446.1:p.Trp356=
XM_011512738.1:c.1162T=	XP_011511040.1:p.Trp388=
XM_011512739.1:c.625T=	XP_011511041.1:p.Trp209=
XM_005247389.4:c.1066T=	XP_005247446.1:p.Trp356=
XM_011512738.2:c.1162T=	XP_011511040.1:p.Trp388=
XM_011512739.2:c.625T=	XP_011511041.1:p.Trp209=
NM_001199799.2:c.1162T= MANE Select	NP_001186728.1:p.Trp388=
NM_001199800.2:c.895T=	NP_001186729.1:p.Trp299=
NM_175924.4:c.1030T=	NP_787120.1:p.Trp344=