Canonical Allele Identifier: CA2568762

Gene: ILDR1

Linked Data

• dbSNP Id: rs756370636
• ExAC: 3:121712522 G / T
• gnomAD v2: 3-121712522-G-T
• gnomAD v4: 3-121993675-G-T
• MyVariant Identifiers: chr3:g.121712522G>T (hg19) ; chr3:g.121993675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993675G>T , CM000665.2:g.121993675G>T	GRCh38
NC_000003.11:g.121712522G>T , CM000665.1:g.121712522G>T	GRCh37
NC_000003.10:g.123195212G>T	NCBI36
NG_031870.1:g.33606C>A
NG_031870.2:g.71880C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1074C>A MANE Select	ENSP00000345667.5:p.Pro358=
ENST00000460554.2:n.1024C>A
ENST00000642615.1:c.*257C>A	ENSP00000495499.1:n.*257C>A
ENST00000273691.7:c.942C>A	ENSP00000273691.3:p.Pro314=
ENST00000344209.9:c.1074C>A	ENSP00000345667.5:p.Pro358=
ENST00000393631.5:c.807C>A	ENSP00000377251.1:p.Pro269=
ENST00000460554.1:n.1176C>A
ENST00000462014.1:c.978C>A	ENSP00000419414.1:p.Pro326=
NM_001199799.1:c.1074C>A	NP_001186728.1:p.Pro358=
NM_001199800.1:c.807C>A	NP_001186729.1:p.Pro269=
NM_175924.3:c.942C>A	NP_787120.1:p.Pro314=
XM_005247389.3:c.978C>A	XP_005247446.1:p.Pro326=
XM_011512738.1:c.1074C>A	XP_011511040.1:p.Pro358=
XM_011512739.1:c.537C>A	XP_011511041.1:p.Pro179=
XM_005247389.4:c.978C>A	XP_005247446.1:p.Pro326=
XM_011512738.2:c.1074C>A	XP_011511040.1:p.Pro358=
XM_011512739.2:c.537C>A	XP_011511041.1:p.Pro179=
NM_001199799.2:c.1074C>A MANE Select	NP_001186728.1:p.Pro358=
NM_001199800.2:c.807C>A	NP_001186729.1:p.Pro269=
NM_175924.4:c.942C>A	NP_787120.1:p.Pro314=