Canonical Allele Identifier: CA1397750941
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993669C= , CM000665.2:g.121993669C= GRCh38
NC_000003.11:g.121712516C= , CM000665.1:g.121712516C= GRCh37
NC_000003.10:g.123195206C= NCBI36
NG_031870.1:g.33612G=
NG_031870.2:g.71886G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1080G= MANE Select ENSP00000345667.5:p.Arg360=
ENST00000460554.2:n.1030G=
ENST00000642615.1:c.*263G= ENSP00000495499.1:n.*263G=
ENST00000273691.7:c.948G= ENSP00000273691.3:p.Arg316=
ENST00000344209.9:c.1080G= ENSP00000345667.5:p.Arg360=
ENST00000393631.5:c.813G= ENSP00000377251.1:p.Arg271=
ENST00000460554.1:n.1182G=
ENST00000462014.1:c.984G= ENSP00000419414.1:p.Arg328=
NM_001199799.1:c.1080G= NP_001186728.1:p.Arg360=
NM_001199800.1:c.813G= NP_001186729.1:p.Arg271=
NM_175924.3:c.948G= NP_787120.1:p.Arg316=
XM_005247389.3:c.984G= XP_005247446.1:p.Arg328=
XM_011512738.1:c.1080G= XP_011511040.1:p.Arg360=
XM_011512739.1:c.543G= XP_011511041.1:p.Arg181=
XM_005247389.4:c.984G= XP_005247446.1:p.Arg328=
XM_011512738.2:c.1080G= XP_011511040.1:p.Arg360=
XM_011512739.2:c.543G= XP_011511041.1:p.Arg181=
NM_001199799.2:c.1080G= MANE Select NP_001186728.1:p.Arg360=
NM_001199800.2:c.813G= NP_001186729.1:p.Arg271=
NM_175924.4:c.948G= NP_787120.1:p.Arg316=