Canonical Allele Identifier: CA354143975
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1448131970

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993680T>C , CM000665.2:g.121993680T>C GRCh38
NC_000003.11:g.121712527T>C , CM000665.1:g.121712527T>C GRCh37
NC_000003.10:g.123195217T>C NCBI36
NG_031870.1:g.33601A>G
NG_031870.2:g.71875A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1069A>G MANE Select ENSP00000345667.5:p.Ile357Val
ENST00000460554.2:n.1019A>G
ENST00000642615.1:c.*252A>G ENSP00000495499.1:n.*252A>G
ENST00000273691.7:c.937A>G ENSP00000273691.3:p.Ile313Val
ENST00000344209.9:c.1069A>G ENSP00000345667.5:p.Ile357Val
ENST00000393631.5:c.802A>G ENSP00000377251.1:p.Ile268Val
ENST00000460554.1:n.1171A>G
ENST00000462014.1:c.973A>G ENSP00000419414.1:p.Ile325Val
NM_001199799.1:c.1069A>G NP_001186728.1:p.Ile357Val
NM_001199800.1:c.802A>G NP_001186729.1:p.Ile268Val
NM_175924.3:c.937A>G NP_787120.1:p.Ile313Val
XM_005247389.3:c.973A>G XP_005247446.1:p.Ile325Val
XM_011512738.1:c.1069A>G XP_011511040.1:p.Ile357Val
XM_011512739.1:c.532A>G XP_011511041.1:p.Ile178Val
XM_005247389.4:c.973A>G XP_005247446.1:p.Ile325Val
XM_011512738.2:c.1069A>G XP_011511040.1:p.Ile357Val
XM_011512739.2:c.532A>G XP_011511041.1:p.Ile178Val
NM_001199799.2:c.1069A>G MANE Select NP_001186728.1:p.Ile357Val
NM_001199800.2:c.802A>G NP_001186729.1:p.Ile268Val
NM_175924.4:c.937A>G NP_787120.1:p.Ile313Val