Canonical Allele Identifier: CA354143950
Gene: ILDR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993668G>C , CM000665.2:g.121993668G>C GRCh38
NC_000003.11:g.121712515G>C , CM000665.1:g.121712515G>C GRCh37
NC_000003.10:g.123195205G>C NCBI36
NG_031870.1:g.33613C>G
NG_031870.2:g.71887C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1081C>G MANE Select ENSP00000345667.5:p.Pro361Ala
ENST00000460554.2:n.1031C>G
ENST00000642615.1:c.*264C>G ENSP00000495499.1:n.*264C>G
ENST00000273691.7:c.949C>G ENSP00000273691.3:p.Pro317Ala
ENST00000344209.9:c.1081C>G ENSP00000345667.5:p.Pro361Ala
ENST00000393631.5:c.814C>G ENSP00000377251.1:p.Pro272Ala
ENST00000460554.1:n.1183C>G
ENST00000462014.1:c.985C>G ENSP00000419414.1:p.Pro329Ala
NM_001199799.1:c.1081C>G NP_001186728.1:p.Pro361Ala
NM_001199800.1:c.814C>G NP_001186729.1:p.Pro272Ala
NM_175924.3:c.949C>G NP_787120.1:p.Pro317Ala
XM_005247389.3:c.985C>G XP_005247446.1:p.Pro329Ala
XM_011512738.1:c.1081C>G XP_011511040.1:p.Pro361Ala
XM_011512739.1:c.544C>G XP_011511041.1:p.Pro182Ala
XM_005247389.4:c.985C>G XP_005247446.1:p.Pro329Ala
XM_011512738.2:c.1081C>G XP_011511040.1:p.Pro361Ala
XM_011512739.2:c.544C>G XP_011511041.1:p.Pro182Ala
NM_001199799.2:c.1081C>G MANE Select NP_001186728.1:p.Pro361Ala
NM_001199800.2:c.814C>G NP_001186729.1:p.Pro272Ala
NM_175924.4:c.949C>G NP_787120.1:p.Pro317Ala