Canonical Allele Identifier: CA1397750919
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993614C= , CM000665.2:g.121993614C= GRCh38
NC_000003.11:g.121712461C= , CM000665.1:g.121712461C= GRCh37
NC_000003.10:g.123195151C= NCBI36
NG_031870.1:g.33667G=
NG_031870.2:g.71941G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1135G= MANE Select ENSP00000345667.5:p.Glu379=
ENST00000460554.2:n.1085G=
ENST00000642615.1:c.*318G= ENSP00000495499.1:n.*318G=
ENST00000273691.7:c.1003G= ENSP00000273691.3:p.Glu335=
ENST00000344209.9:c.1135G= ENSP00000345667.5:p.Glu379=
ENST00000393631.5:c.868G= ENSP00000377251.1:p.Glu290=
ENST00000460554.1:n.1237G=
ENST00000462014.1:c.1039G= ENSP00000419414.1:p.Glu347=
NM_001199799.1:c.1135G= NP_001186728.1:p.Glu379=
NM_001199800.1:c.868G= NP_001186729.1:p.Glu290=
NM_175924.3:c.1003G= NP_787120.1:p.Glu335=
XM_005247389.3:c.1039G= XP_005247446.1:p.Glu347=
XM_011512738.1:c.1135G= XP_011511040.1:p.Glu379=
XM_011512739.1:c.598G= XP_011511041.1:p.Glu200=
XM_005247389.4:c.1039G= XP_005247446.1:p.Glu347=
XM_011512738.2:c.1135G= XP_011511040.1:p.Glu379=
XM_011512739.2:c.598G= XP_011511041.1:p.Glu200=
NM_001199799.2:c.1135G= MANE Select NP_001186728.1:p.Glu379=
NM_001199800.2:c.868G= NP_001186729.1:p.Glu290=
NM_175924.4:c.1003G= NP_787120.1:p.Glu335=