Canonical Allele Identifier: CA2568764

Gene: ILDR1

Linked Data

• dbSNP Id: rs565240888
• ExAC: 3:121712532 G / A
• gnomAD v2: 3-121712532-G-A
• gnomAD v3: 3-121993685-G-A
• gnomAD v4: 3-121993685-G-A
• MyVariant Identifiers: chr3:g.121712532G>A (hg19) ; chr3:g.121993685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993685G>A , CM000665.2:g.121993685G>A	GRCh38
NC_000003.11:g.121712532G>A , CM000665.1:g.121712532G>A	GRCh37
NC_000003.10:g.123195222G>A	NCBI36
NG_031870.1:g.33596C>T
NG_031870.2:g.71870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1064C>T MANE Select	ENSP00000345667.5:p.Thr355Ile
ENST00000460554.2:n.1014C>T
ENST00000642615.1:c.*247C>T	ENSP00000495499.1:n.*247C>T
ENST00000273691.7:c.932C>T	ENSP00000273691.3:p.Thr311Ile
ENST00000344209.9:c.1064C>T	ENSP00000345667.5:p.Thr355Ile
ENST00000393631.5:c.797C>T	ENSP00000377251.1:p.Thr266Ile
ENST00000460554.1:n.1166C>T
ENST00000462014.1:c.968C>T	ENSP00000419414.1:p.Thr323Ile
NM_001199799.1:c.1064C>T	NP_001186728.1:p.Thr355Ile
NM_001199800.1:c.797C>T	NP_001186729.1:p.Thr266Ile
NM_175924.3:c.932C>T	NP_787120.1:p.Thr311Ile
XM_005247389.3:c.968C>T	XP_005247446.1:p.Thr323Ile
XM_011512738.1:c.1064C>T	XP_011511040.1:p.Thr355Ile
XM_011512739.1:c.527C>T	XP_011511041.1:p.Thr176Ile
XM_005247389.4:c.968C>T	XP_005247446.1:p.Thr323Ile
XM_011512738.2:c.1064C>T	XP_011511040.1:p.Thr355Ile
XM_011512739.2:c.527C>T	XP_011511041.1:p.Thr176Ile
NM_001199799.2:c.1064C>T MANE Select	NP_001186728.1:p.Thr355Ile
NM_001199800.2:c.797C>T	NP_001186729.1:p.Thr266Ile
NM_175924.4:c.932C>T	NP_787120.1:p.Thr311Ile