Canonical Allele Identifier: CA2568747

Gene: ILDR1

Linked Data

• dbSNP Id: rs780179284
• ExAC: 3:121712423 T / A
• gnomAD v2: 3-121712423-T-A
• gnomAD v3: 3-121993576-T-A
• gnomAD v4: 3-121993576-T-A
• MyVariant Identifiers: chr3:g.121712423T>A (hg19) ; chr3:g.121993576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993576T>A , CM000665.2:g.121993576T>A	GRCh38
NC_000003.11:g.121712423T>A , CM000665.1:g.121712423T>A	GRCh37
NC_000003.10:g.123195113T>A	NCBI36
NG_031870.1:g.33705A>T
NG_031870.2:g.71979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1173A>T MANE Select	ENSP00000345667.5:p.Glu391Asp
ENST00000460554.2:n.1123A>T
ENST00000642615.1:c.*356A>T	ENSP00000495499.1:n.*356A>T
ENST00000273691.7:c.1041A>T	ENSP00000273691.3:p.Glu347Asp
ENST00000344209.9:c.1173A>T	ENSP00000345667.5:p.Glu391Asp
ENST00000393631.5:c.906A>T	ENSP00000377251.1:p.Glu302Asp
ENST00000460554.1:n.1275A>T
ENST00000462014.1:c.1077A>T	ENSP00000419414.1:p.Glu359Asp
NM_001199799.1:c.1173A>T	NP_001186728.1:p.Glu391Asp
NM_001199800.1:c.906A>T	NP_001186729.1:p.Glu302Asp
NM_175924.3:c.1041A>T	NP_787120.1:p.Glu347Asp
XM_005247389.3:c.1077A>T	XP_005247446.1:p.Glu359Asp
XM_011512738.1:c.1173A>T	XP_011511040.1:p.Glu391Asp
XM_011512739.1:c.636A>T	XP_011511041.1:p.Glu212Asp
XM_005247389.4:c.1077A>T	XP_005247446.1:p.Glu359Asp
XM_011512738.2:c.1173A>T	XP_011511040.1:p.Glu391Asp
XM_011512739.2:c.636A>T	XP_011511041.1:p.Glu212Asp
NM_001199799.2:c.1173A>T MANE Select	NP_001186728.1:p.Glu391Asp
NM_001199800.2:c.906A>T	NP_001186729.1:p.Glu302Asp
NM_175924.4:c.1041A>T	NP_787120.1:p.Glu347Asp