Canonical Allele Identifier: CA1397750938
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993665A= , CM000665.2:g.121993665A= GRCh38
NC_000003.11:g.121712512A= , CM000665.1:g.121712512A= GRCh37
NC_000003.10:g.123195202A= NCBI36
NG_031870.1:g.33616T=
NG_031870.2:g.71890T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1084T= MANE Select ENSP00000345667.5:p.Trp362=
ENST00000460554.2:n.1034T=
ENST00000642615.1:c.*267T= ENSP00000495499.1:n.*267T=
ENST00000273691.7:c.952T= ENSP00000273691.3:p.Trp318=
ENST00000344209.9:c.1084T= ENSP00000345667.5:p.Trp362=
ENST00000393631.5:c.817T= ENSP00000377251.1:p.Trp273=
ENST00000460554.1:n.1186T=
ENST00000462014.1:c.988T= ENSP00000419414.1:p.Trp330=
NM_001199799.1:c.1084T= NP_001186728.1:p.Trp362=
NM_001199800.1:c.817T= NP_001186729.1:p.Trp273=
NM_175924.3:c.952T= NP_787120.1:p.Trp318=
XM_005247389.3:c.988T= XP_005247446.1:p.Trp330=
XM_011512738.1:c.1084T= XP_011511040.1:p.Trp362=
XM_011512739.1:c.547T= XP_011511041.1:p.Trp183=
XM_005247389.4:c.988T= XP_005247446.1:p.Trp330=
XM_011512738.2:c.1084T= XP_011511040.1:p.Trp362=
XM_011512739.2:c.547T= XP_011511041.1:p.Trp183=
NM_001199799.2:c.1084T= MANE Select NP_001186728.1:p.Trp362=
NM_001199800.2:c.817T= NP_001186729.1:p.Trp273=
NM_175924.4:c.952T= NP_787120.1:p.Trp318=