Canonical Allele Identifier: CA354141832

Gene: ILDR1

Linked Data

• dbSNP Id: rs1324181316
• gnomAD v2: 3-121712028-C-T
• gnomAD v3: 3-121993181-C-T
• gnomAD v4: 3-121993181-C-T
• MyVariant Identifiers: chr3:g.121712028C>T (hg19) ; chr3:g.121993181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993181C>T , CM000665.2:g.121993181C>T	GRCh38
NC_000003.11:g.121712028C>T , CM000665.1:g.121712028C>T	GRCh37
NC_000003.10:g.123194718C>T	NCBI36
NG_031870.1:g.34100G>A
NG_031870.2:g.72374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1568G>A MANE Select	ENSP00000345667.5:p.Ser523Asn
ENST00000460554.2:n.1518G>A
ENST00000642615.1:c.*751G>A	ENSP00000495499.1:n.*751G>A
ENST00000273691.7:c.1436G>A	ENSP00000273691.3:p.Ser479Asn
ENST00000344209.9:c.1568G>A	ENSP00000345667.5:p.Ser523Asn
ENST00000393631.5:c.1301G>A	ENSP00000377251.1:p.Ser434Asn
ENST00000460554.1:n.1670G>A
ENST00000462014.1:c.1472G>A	ENSP00000419414.1:p.Ser491Asn
NM_001199799.1:c.1568G>A	NP_001186728.1:p.Ser523Asn
NM_001199800.1:c.1301G>A	NP_001186729.1:p.Ser434Asn
NM_175924.3:c.1436G>A	NP_787120.1:p.Ser479Asn
XM_005247389.3:c.1472G>A	XP_005247446.1:p.Ser491Asn
XM_011512738.1:c.1558+10G>A	XP_011511040.1:n.1558+10G>A
XM_011512739.1:c.1031G>A	XP_011511041.1:p.Ser344Asn
XM_005247389.4:c.1472G>A	XP_005247446.1:p.Ser491Asn
XM_011512738.2:c.1558+10G>A	XP_011511040.1:n.1558+10G>A
XM_011512739.2:c.1031G>A	XP_011511041.1:p.Ser344Asn
NM_001199799.2:c.1568G>A MANE Select	NP_001186728.1:p.Ser523Asn
NM_001199800.2:c.1301G>A	NP_001186729.1:p.Ser434Asn
NM_175924.4:c.1436G>A	NP_787120.1:p.Ser479Asn