Canonical Allele Identifier: CA435423820
Gene: ILDR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.121712393T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993546T>A , CM000665.2:g.121993546T>A GRCh38
NC_000003.11:g.121712393T>A , CM000665.1:g.121712393T>A GRCh37
NC_000003.10:g.123195083T>A NCBI36
NG_031870.1:g.33735A>T
NG_031870.2:g.72009A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1203A>T MANE Select ENSP00000345667.5:p.Gly401=
ENST00000460554.2:n.1153A>T
ENST00000642615.1:c.*386A>T ENSP00000495499.1:n.*386A>T
ENST00000273691.7:c.1071A>T ENSP00000273691.3:p.Gly357=
ENST00000344209.9:c.1203A>T ENSP00000345667.5:p.Gly401=
ENST00000393631.5:c.936A>T ENSP00000377251.1:p.Gly312=
ENST00000460554.1:n.1305A>T
ENST00000462014.1:c.1107A>T ENSP00000419414.1:p.Gly369=
NM_001199799.1:c.1203A>T NP_001186728.1:p.Gly401=
NM_001199800.1:c.936A>T NP_001186729.1:p.Gly312=
NM_175924.3:c.1071A>T NP_787120.1:p.Gly357=
XM_005247389.3:c.1107A>T XP_005247446.1:p.Gly369=
XM_011512738.1:c.1203A>T XP_011511040.1:p.Gly401=
XM_011512739.1:c.666A>T XP_011511041.1:p.Gly222=
XM_005247389.4:c.1107A>T XP_005247446.1:p.Gly369=
XM_011512738.2:c.1203A>T XP_011511040.1:p.Gly401=
XM_011512739.2:c.666A>T XP_011511041.1:p.Gly222=
NM_001199799.2:c.1203A>T MANE Select NP_001186728.1:p.Gly401=
NM_001199800.2:c.936A>T NP_001186729.1:p.Gly312=
NM_175924.4:c.1071A>T NP_787120.1:p.Gly357=