Canonical Allele Identifier: CA435423909

Gene: ILDR1

Linked Data

• dbSNP Id: rs2071392146
• MyVariant Identifiers: chr3:g.121712549C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993702C>T , CM000665.2:g.121993702C>T	GRCh38
NC_000003.11:g.121712549C>T , CM000665.1:g.121712549C>T	GRCh37
NC_000003.10:g.123195239C>T	NCBI36
NG_031870.1:g.33579G>A
NG_031870.2:g.71853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1047G>A MANE Select	ENSP00000345667.5:p.Leu349=
ENST00000460554.2:n.997G>A
ENST00000642615.1:c.*230G>A	ENSP00000495499.1:n.*230G>A
ENST00000273691.7:c.915G>A	ENSP00000273691.3:p.Leu305=
ENST00000344209.9:c.1047G>A	ENSP00000345667.5:p.Leu349=
ENST00000393631.5:c.780G>A	ENSP00000377251.1:p.Leu260=
ENST00000460554.1:n.1149G>A
ENST00000462014.1:c.951G>A	ENSP00000419414.1:p.Leu317=
NM_001199799.1:c.1047G>A	NP_001186728.1:p.Leu349=
NM_001199800.1:c.780G>A	NP_001186729.1:p.Leu260=
NM_175924.3:c.915G>A	NP_787120.1:p.Leu305=
XM_005247389.3:c.951G>A	XP_005247446.1:p.Leu317=
XM_011512738.1:c.1047G>A	XP_011511040.1:p.Leu349=
XM_011512739.1:c.510G>A	XP_011511041.1:p.Leu170=
XM_005247389.4:c.951G>A	XP_005247446.1:p.Leu317=
XM_011512738.2:c.1047G>A	XP_011511040.1:p.Leu349=
XM_011512739.2:c.510G>A	XP_011511041.1:p.Leu170=
NM_001199799.2:c.1047G>A MANE Select	NP_001186728.1:p.Leu349=
NM_001199800.2:c.780G>A	NP_001186729.1:p.Leu260=
NM_175924.4:c.915G>A	NP_787120.1:p.Leu305=