Canonical Allele Identifier: CA1397750953

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993698G= , CM000665.2:g.121993698G=	GRCh38
NC_000003.11:g.121712545G= , CM000665.1:g.121712545G=	GRCh37
NC_000003.10:g.123195235G=	NCBI36
NG_031870.1:g.33583C=
NG_031870.2:g.71857C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1051C= MANE Select	ENSP00000345667.5:p.Gln351=
ENST00000460554.2:n.1001C=
ENST00000642615.1:c.*234C=	ENSP00000495499.1:n.*234C=
ENST00000273691.7:c.919C=	ENSP00000273691.3:p.Gln307=
ENST00000344209.9:c.1051C=	ENSP00000345667.5:p.Gln351=
ENST00000393631.5:c.784C=	ENSP00000377251.1:p.Gln262=
ENST00000460554.1:n.1153C=
ENST00000462014.1:c.955C=	ENSP00000419414.1:p.Gln319=
NM_001199799.1:c.1051C=	NP_001186728.1:p.Gln351=
NM_001199800.1:c.784C=	NP_001186729.1:p.Gln262=
NM_175924.3:c.919C=	NP_787120.1:p.Gln307=
XM_005247389.3:c.955C=	XP_005247446.1:p.Gln319=
XM_011512738.1:c.1051C=	XP_011511040.1:p.Gln351=
XM_011512739.1:c.514C=	XP_011511041.1:p.Gln172=
XM_005247389.4:c.955C=	XP_005247446.1:p.Gln319=
XM_011512738.2:c.1051C=	XP_011511040.1:p.Gln351=
XM_011512739.2:c.514C=	XP_011511041.1:p.Gln172=
NM_001199799.2:c.1051C= MANE Select	NP_001186728.1:p.Gln351=
NM_001199800.2:c.784C=	NP_001186729.1:p.Gln262=
NM_175924.4:c.919C=	NP_787120.1:p.Gln307=