Canonical Allele Identifier: CA2568768

Gene: ILDR1

Linked Data

• dbSNP Id: rs753262737
• ExAC: 3:121712551 G / A
• gnomAD v2: 3-121712551-G-A
• gnomAD v4: 3-121993704-G-A
• MyVariant Identifiers: chr3:g.121712551G>A (hg19) ; chr3:g.121993704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993704G>A , CM000665.2:g.121993704G>A	GRCh38
NC_000003.11:g.121712551G>A , CM000665.1:g.121712551G>A	GRCh37
NC_000003.10:g.123195241G>A	NCBI36
NG_031870.1:g.33577C>T
NG_031870.2:g.71851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1045C>T MANE Select	ENSP00000345667.5:p.Leu349=
ENST00000460554.2:n.995C>T
ENST00000642615.1:c.*228C>T	ENSP00000495499.1:n.*228C>T
ENST00000273691.7:c.913C>T	ENSP00000273691.3:p.Leu305=
ENST00000344209.9:c.1045C>T	ENSP00000345667.5:p.Leu349=
ENST00000393631.5:c.778C>T	ENSP00000377251.1:p.Leu260=
ENST00000460554.1:n.1147C>T
ENST00000462014.1:c.949C>T	ENSP00000419414.1:p.Leu317=
NM_001199799.1:c.1045C>T	NP_001186728.1:p.Leu349=
NM_001199800.1:c.778C>T	NP_001186729.1:p.Leu260=
NM_175924.3:c.913C>T	NP_787120.1:p.Leu305=
XM_005247389.3:c.949C>T	XP_005247446.1:p.Leu317=
XM_011512738.1:c.1045C>T	XP_011511040.1:p.Leu349=
XM_011512739.1:c.508C>T	XP_011511041.1:p.Leu170=
XM_005247389.4:c.949C>T	XP_005247446.1:p.Leu317=
XM_011512738.2:c.1045C>T	XP_011511040.1:p.Leu349=
XM_011512739.2:c.508C>T	XP_011511041.1:p.Leu170=
NM_001199799.2:c.1045C>T MANE Select	NP_001186728.1:p.Leu349=
NM_001199800.2:c.778C>T	NP_001186729.1:p.Leu260=
NM_175924.4:c.913C>T	NP_787120.1:p.Leu305=