Canonical Allele Identifier: CA1397750959

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993706G= , CM000665.2:g.121993706G=	GRCh38
NC_000003.11:g.121712553G= , CM000665.1:g.121712553G=	GRCh37
NC_000003.10:g.123195243G=	NCBI36
NG_031870.1:g.33575C=
NG_031870.2:g.71849C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1043C= MANE Select	ENSP00000345667.5:p.Ser348=
ENST00000460554.2:n.993C=
ENST00000642615.1:c.*226C=	ENSP00000495499.1:n.*226C=
ENST00000273691.7:c.911C=	ENSP00000273691.3:p.Ser304=
ENST00000344209.9:c.1043C=	ENSP00000345667.5:p.Ser348=
ENST00000393631.5:c.776C=	ENSP00000377251.1:p.Ser259=
ENST00000460554.1:n.1145C=
ENST00000462014.1:c.947C=	ENSP00000419414.1:p.Ser316=
NM_001199799.1:c.1043C=	NP_001186728.1:p.Ser348=
NM_001199800.1:c.776C=	NP_001186729.1:p.Ser259=
NM_175924.3:c.911C=	NP_787120.1:p.Ser304=
XM_005247389.3:c.947C=	XP_005247446.1:p.Ser316=
XM_011512738.1:c.1043C=	XP_011511040.1:p.Ser348=
XM_011512739.1:c.506C=	XP_011511041.1:p.Ser169=
XM_005247389.4:c.947C=	XP_005247446.1:p.Ser316=
XM_011512738.2:c.1043C=	XP_011511040.1:p.Ser348=
XM_011512739.2:c.506C=	XP_011511041.1:p.Ser169=
NM_001199799.2:c.1043C= MANE Select	NP_001186728.1:p.Ser348=
NM_001199800.2:c.776C=	NP_001186729.1:p.Ser259=
NM_175924.4:c.911C=	NP_787120.1:p.Ser304=