Canonical Allele Identifier: CA1397750937
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993662C= , CM000665.2:g.121993662C= GRCh38
NC_000003.11:g.121712509C= , CM000665.1:g.121712509C= GRCh37
NC_000003.10:g.123195199C= NCBI36
NG_031870.1:g.33619G=
NG_031870.2:g.71893G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1087G= MANE Select ENSP00000345667.5:p.Asp363=
ENST00000460554.2:n.1037G=
ENST00000642615.1:c.*270G= ENSP00000495499.1:n.*270G=
ENST00000273691.7:c.955G= ENSP00000273691.3:p.Asp319=
ENST00000344209.9:c.1087G= ENSP00000345667.5:p.Asp363=
ENST00000393631.5:c.820G= ENSP00000377251.1:p.Asp274=
ENST00000460554.1:n.1189G=
ENST00000462014.1:c.991G= ENSP00000419414.1:p.Asp331=
NM_001199799.1:c.1087G= NP_001186728.1:p.Asp363=
NM_001199800.1:c.820G= NP_001186729.1:p.Asp274=
NM_175924.3:c.955G= NP_787120.1:p.Asp319=
XM_005247389.3:c.991G= XP_005247446.1:p.Asp331=
XM_011512738.1:c.1087G= XP_011511040.1:p.Asp363=
XM_011512739.1:c.550G= XP_011511041.1:p.Asp184=
XM_005247389.4:c.991G= XP_005247446.1:p.Asp331=
XM_011512738.2:c.1087G= XP_011511040.1:p.Asp363=
XM_011512739.2:c.550G= XP_011511041.1:p.Asp184=
NM_001199799.2:c.1087G= MANE Select NP_001186728.1:p.Asp363=
NM_001199800.2:c.820G= NP_001186729.1:p.Asp274=
NM_175924.4:c.955G= NP_787120.1:p.Asp319=