Canonical Allele Identifier: CA1397754223

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122001371G= , CM000665.2:g.122001371G=	GRCh38
NC_000003.11:g.121720218G= , CM000665.1:g.121720218G=	GRCh37
NC_000003.10:g.123202908G=	NCBI36
NG_031870.1:g.25910C=
NG_031870.2:g.64184C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001199799.2:c.583C= MANE Select	NP_001186728.1:p.Gln195=
ENST00000344209.10:c.583C= MANE Select	ENSP00000345667.5:p.Gln195=
NM_001199799.1:c.583C=	NP_001186728.1:p.Gln195=
NM_001199800.1:c.379+3873C=	NP_001186729.1:n.379+3873C=
NM_001199800.2:c.379+3873C=	NP_001186729.1:n.379+3873C=
NM_175924.3:c.583C=	NP_787120.1:p.Gln195=
NM_175924.4:c.583C=	NP_787120.1:p.Gln195=
ENST00000273691.7:c.583C=	ENSP00000273691.3:p.Gln195=
ENST00000344209.9:c.583C=	ENSP00000345667.5:p.Gln195=
ENST00000393631.5:c.379+3873C=	ENSP00000377251.1:n.379+3873C=
ENST00000460554.1:n.704C=
ENST00000460554.2:n.665C=
ENST00000462014.1:c.619C=	ENSP00000419414.1:p.Gln207=
ENST00000642615.1:c.583C=	ENSP00000495499.1:p.Gln195=
XM_005247389.3:c.619C=	XP_005247446.1:p.Gln207=
XM_005247389.4:c.619C=	XP_005247446.1:p.Gln207=
XM_011512738.1:c.583C=	XP_011511040.1:p.Gln195=
XM_011512738.2:c.583C=	XP_011511040.1:p.Gln195=
XM_011512739.1:c.178C=	XP_011511041.1:p.Gln60=
XM_011512739.2:c.178C=	XP_011511041.1:p.Gln60=