Canonical Allele Identifier: CA1397750926

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993636G= , CM000665.2:g.121993636G=	GRCh38
NC_000003.11:g.121712483G= , CM000665.1:g.121712483G=	GRCh37
NC_000003.10:g.123195173G=	NCBI36
NG_031870.1:g.33645C=
NG_031870.2:g.71919C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1113C= MANE Select	ENSP00000345667.5:p.His371=
ENST00000460554.2:n.1063C=
ENST00000642615.1:c.*296C=	ENSP00000495499.1:n.*296C=
ENST00000273691.7:c.981C=	ENSP00000273691.3:p.His327=
ENST00000344209.9:c.1113C=	ENSP00000345667.5:p.His371=
ENST00000393631.5:c.846C=	ENSP00000377251.1:p.His282=
ENST00000460554.1:n.1215C=
ENST00000462014.1:c.1017C=	ENSP00000419414.1:p.His339=
NM_001199799.1:c.1113C=	NP_001186728.1:p.His371=
NM_001199800.1:c.846C=	NP_001186729.1:p.His282=
NM_175924.3:c.981C=	NP_787120.1:p.His327=
XM_005247389.3:c.1017C=	XP_005247446.1:p.His339=
XM_011512738.1:c.1113C=	XP_011511040.1:p.His371=
XM_011512739.1:c.576C=	XP_011511041.1:p.His192=
XM_005247389.4:c.1017C=	XP_005247446.1:p.His339=
XM_011512738.2:c.1113C=	XP_011511040.1:p.His371=
XM_011512739.2:c.576C=	XP_011511041.1:p.His192=
NM_001199799.2:c.1113C= MANE Select	NP_001186728.1:p.His371=
NM_001199800.2:c.846C=	NP_001186729.1:p.His282=
NM_175924.4:c.981C=	NP_787120.1:p.His327=