Canonical Allele Identifier: CA1397750638
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993096C= , CM000665.2:g.121993096C= GRCh38
NC_000003.11:g.121711943C= , CM000665.1:g.121711943C= GRCh37
NC_000003.10:g.123194633C= NCBI36
NG_031870.1:g.34185G=
NG_031870.2:g.72459G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1599+54G= MANE Select ENSP00000345667.5:n.1599+54G=
ENST00000460554.2:n.1549+54G=
ENST00000642615.1:c.*782+54G= ENSP00000495499.1:n.*782+54G=
ENST00000273691.7:c.1467+54G= ENSP00000273691.3:n.1467+54G=
ENST00000344209.9:c.1599+54G= ENSP00000345667.5:n.1599+54G=
ENST00000393631.5:c.1332+54G= ENSP00000377251.1:n.1332+54G=
ENST00000462014.1:c.1503+54G= ENSP00000419414.1:n.1503+54G=
NM_001199799.1:c.1599+54G= NP_001186728.1:n.1599+54G=
NM_001199800.1:c.1332+54G= NP_001186729.1:n.1332+54G=
NM_175924.3:c.1467+54G= NP_787120.1:n.1467+54G=
XM_005247389.3:c.1503+54G= XP_005247446.1:n.1503+54G=
XM_011512738.1:c.1558+95G= XP_011511040.1:n.1558+95G=
XM_011512739.1:c.1062+54G= XP_011511041.1:n.1062+54G=
XM_005247389.4:c.1503+54G= XP_005247446.1:n.1503+54G=
XM_011512738.2:c.1558+95G= XP_011511040.1:n.1558+95G=
XM_011512739.2:c.1062+54G= XP_011511041.1:n.1062+54G=
NM_001199799.2:c.1599+54G= MANE Select NP_001186728.1:n.1599+54G=
NM_001199800.2:c.1332+54G= NP_001186729.1:n.1332+54G=
NM_175924.4:c.1467+54G= NP_787120.1:n.1467+54G=