Canonical Allele Identifier: CA354143962
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs930698637

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993674A>G , CM000665.2:g.121993674A>G GRCh38
NC_000003.11:g.121712521A>G , CM000665.1:g.121712521A>G GRCh37
NC_000003.10:g.123195211A>G NCBI36
NG_031870.1:g.33607T>C
NG_031870.2:g.71881T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1075T>C MANE Select ENSP00000345667.5:p.Ser359Pro
ENST00000460554.2:n.1025T>C
ENST00000642615.1:c.*258T>C ENSP00000495499.1:n.*258T>C
ENST00000273691.7:c.943T>C ENSP00000273691.3:p.Ser315Pro
ENST00000344209.9:c.1075T>C ENSP00000345667.5:p.Ser359Pro
ENST00000393631.5:c.808T>C ENSP00000377251.1:p.Ser270Pro
ENST00000460554.1:n.1177T>C
ENST00000462014.1:c.979T>C ENSP00000419414.1:p.Ser327Pro
NM_001199799.1:c.1075T>C NP_001186728.1:p.Ser359Pro
NM_001199800.1:c.808T>C NP_001186729.1:p.Ser270Pro
NM_175924.3:c.943T>C NP_787120.1:p.Ser315Pro
XM_005247389.3:c.979T>C XP_005247446.1:p.Ser327Pro
XM_011512738.1:c.1075T>C XP_011511040.1:p.Ser359Pro
XM_011512739.1:c.538T>C XP_011511041.1:p.Ser180Pro
XM_005247389.4:c.979T>C XP_005247446.1:p.Ser327Pro
XM_011512738.2:c.1075T>C XP_011511040.1:p.Ser359Pro
XM_011512739.2:c.538T>C XP_011511041.1:p.Ser180Pro
NM_001199799.2:c.1075T>C MANE Select NP_001186728.1:p.Ser359Pro
NM_001199800.2:c.808T>C NP_001186729.1:p.Ser270Pro
NM_175924.4:c.943T>C NP_787120.1:p.Ser315Pro