Canonical Allele Identifier: CA1397750934
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993650C= , CM000665.2:g.121993650C= GRCh38
NC_000003.11:g.121712497C= , CM000665.1:g.121712497C= GRCh37
NC_000003.10:g.123195187C= NCBI36
NG_031870.1:g.33631G=
NG_031870.2:g.71905G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1099G= MANE Select ENSP00000345667.5:p.Gly367=
ENST00000460554.2:n.1049G=
ENST00000642615.1:c.*282G= ENSP00000495499.1:n.*282G=
ENST00000273691.7:c.967G= ENSP00000273691.3:p.Gly323=
ENST00000344209.9:c.1099G= ENSP00000345667.5:p.Gly367=
ENST00000393631.5:c.832G= ENSP00000377251.1:p.Gly278=
ENST00000460554.1:n.1201G=
ENST00000462014.1:c.1003G= ENSP00000419414.1:p.Gly335=
NM_001199799.1:c.1099G= NP_001186728.1:p.Gly367=
NM_001199800.1:c.832G= NP_001186729.1:p.Gly278=
NM_175924.3:c.967G= NP_787120.1:p.Gly323=
XM_005247389.3:c.1003G= XP_005247446.1:p.Gly335=
XM_011512738.1:c.1099G= XP_011511040.1:p.Gly367=
XM_011512739.1:c.562G= XP_011511041.1:p.Gly188=
XM_005247389.4:c.1003G= XP_005247446.1:p.Gly335=
XM_011512738.2:c.1099G= XP_011511040.1:p.Gly367=
XM_011512739.2:c.562G= XP_011511041.1:p.Gly188=
NM_001199799.2:c.1099G= MANE Select NP_001186728.1:p.Gly367=
NM_001199800.2:c.832G= NP_001186729.1:p.Gly278=
NM_175924.4:c.967G= NP_787120.1:p.Gly323=