Canonical Allele Identifier: CA1397750954

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993699G= , CM000665.2:g.121993699G=	GRCh38
NC_000003.11:g.121712546G= , CM000665.1:g.121712546G=	GRCh37
NC_000003.10:g.123195236G=	NCBI36
NG_031870.1:g.33582C=
NG_031870.2:g.71856C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1050C= MANE Select	ENSP00000345667.5:p.His350=
ENST00000460554.2:n.1000C=
ENST00000642615.1:c.*233C=	ENSP00000495499.1:n.*233C=
ENST00000273691.7:c.918C=	ENSP00000273691.3:p.His306=
ENST00000344209.9:c.1050C=	ENSP00000345667.5:p.His350=
ENST00000393631.5:c.783C=	ENSP00000377251.1:p.His261=
ENST00000460554.1:n.1152C=
ENST00000462014.1:c.954C=	ENSP00000419414.1:p.His318=
NM_001199799.1:c.1050C=	NP_001186728.1:p.His350=
NM_001199800.1:c.783C=	NP_001186729.1:p.His261=
NM_175924.3:c.918C=	NP_787120.1:p.His306=
XM_005247389.3:c.954C=	XP_005247446.1:p.His318=
XM_011512738.1:c.1050C=	XP_011511040.1:p.His350=
XM_011512739.1:c.513C=	XP_011511041.1:p.His171=
XM_005247389.4:c.954C=	XP_005247446.1:p.His318=
XM_011512738.2:c.1050C=	XP_011511040.1:p.His350=
XM_011512739.2:c.513C=	XP_011511041.1:p.His171=
NM_001199799.2:c.1050C= MANE Select	NP_001186728.1:p.His350=
NM_001199800.2:c.783C=	NP_001186729.1:p.His261=
NM_175924.4:c.918C=	NP_787120.1:p.His306=