Canonical Allele Identifier: CA354143314

Gene: ILDR1

Linked Data

• dbSNP Id: rs148486121
• gnomAD v2: 3-121712369-A-T
• gnomAD v4: 3-121993522-A-T
• MyVariant Identifiers: chr3:g.121712369A>T (hg19) ; chr3:g.121993522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993522A>T , CM000665.2:g.121993522A>T	GRCh38
NC_000003.11:g.121712369A>T , CM000665.1:g.121712369A>T	GRCh37
NC_000003.10:g.123195059A>T	NCBI36
NG_031870.1:g.33759T>A
NG_031870.2:g.72033T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1227T>A MANE Select	ENSP00000345667.5:p.Asn409Lys
ENST00000460554.2:n.1177T>A
ENST00000642615.1:c.*410T>A	ENSP00000495499.1:n.*410T>A
ENST00000273691.7:c.1095T>A	ENSP00000273691.3:p.Asn365Lys
ENST00000344209.9:c.1227T>A	ENSP00000345667.5:p.Asn409Lys
ENST00000393631.5:c.960T>A	ENSP00000377251.1:p.Asn320Lys
ENST00000460554.1:n.1329T>A
ENST00000462014.1:c.1131T>A	ENSP00000419414.1:p.Asn377Lys
NM_001199799.1:c.1227T>A	NP_001186728.1:p.Asn409Lys
NM_001199800.1:c.960T>A	NP_001186729.1:p.Asn320Lys
NM_175924.3:c.1095T>A	NP_787120.1:p.Asn365Lys
XM_005247389.3:c.1131T>A	XP_005247446.1:p.Asn377Lys
XM_011512738.1:c.1227T>A	XP_011511040.1:p.Asn409Lys
XM_011512739.1:c.690T>A	XP_011511041.1:p.Asn230Lys
XM_005247389.4:c.1131T>A	XP_005247446.1:p.Asn377Lys
XM_011512738.2:c.1227T>A	XP_011511040.1:p.Asn409Lys
XM_011512739.2:c.690T>A	XP_011511041.1:p.Asn230Lys
NM_001199799.2:c.1227T>A MANE Select	NP_001186728.1:p.Asn409Lys
NM_001199800.2:c.960T>A	NP_001186729.1:p.Asn320Lys
NM_175924.4:c.1095T>A	NP_787120.1:p.Asn365Lys