Canonical Allele Identifier: CA354142102

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993239-A-G
• MyVariant Identifiers: chr3:g.121712086A>G (hg19) ; chr3:g.121993239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993239A>G , CM000665.2:g.121993239A>G	GRCh38
NC_000003.11:g.121712086A>G , CM000665.1:g.121712086A>G	GRCh37
NC_000003.10:g.123194776A>G	NCBI36
NG_031870.1:g.34042T>C
NG_031870.2:g.72316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1510T>C MANE Select	ENSP00000345667.5:p.Trp504Arg
ENST00000460554.2:n.1460T>C
ENST00000642615.1:c.*693T>C	ENSP00000495499.1:n.*693T>C
ENST00000273691.7:c.1378T>C	ENSP00000273691.3:p.Trp460Arg
ENST00000344209.9:c.1510T>C	ENSP00000345667.5:p.Trp504Arg
ENST00000393631.5:c.1243T>C	ENSP00000377251.1:p.Trp415Arg
ENST00000460554.1:n.1612T>C
ENST00000462014.1:c.1414T>C	ENSP00000419414.1:p.Trp472Arg
NM_001199799.1:c.1510T>C	NP_001186728.1:p.Trp504Arg
NM_001199800.1:c.1243T>C	NP_001186729.1:p.Trp415Arg
NM_175924.3:c.1378T>C	NP_787120.1:p.Trp460Arg
XM_005247389.3:c.1414T>C	XP_005247446.1:p.Trp472Arg
XM_011512738.1:c.1510T>C	XP_011511040.1:p.Trp504Arg
XM_011512739.1:c.973T>C	XP_011511041.1:p.Trp325Arg
XM_005247389.4:c.1414T>C	XP_005247446.1:p.Trp472Arg
XM_011512738.2:c.1510T>C	XP_011511040.1:p.Trp504Arg
XM_011512739.2:c.973T>C	XP_011511041.1:p.Trp325Arg
NM_001199799.2:c.1510T>C MANE Select	NP_001186728.1:p.Trp504Arg
NM_001199800.2:c.1243T>C	NP_001186729.1:p.Trp415Arg
NM_175924.4:c.1378T>C	NP_787120.1:p.Trp460Arg