Canonical Allele Identifier: CA2568625

Gene: ILDR1

Linked Data

• dbSNP Id: rs773155662
• ExAC: 3:121712030 A / C
• gnomAD v4: 3-121993183-A-C
• MyVariant Identifiers: chr3:g.121712030A>C (hg19) ; chr3:g.121993183A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993183A>C , CM000665.2:g.121993183A>C	GRCh38
NC_000003.11:g.121712030A>C , CM000665.1:g.121712030A>C	GRCh37
NC_000003.10:g.123194720A>C	NCBI36
NG_031870.1:g.34098T>G
NG_031870.2:g.72372T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1566T>G MANE Select	ENSP00000345667.5:p.Asn522Lys
ENST00000460554.2:n.1516T>G
ENST00000642615.1:c.*749T>G	ENSP00000495499.1:n.*749T>G
ENST00000273691.7:c.1434T>G	ENSP00000273691.3:p.Asn478Lys
ENST00000344209.9:c.1566T>G	ENSP00000345667.5:p.Asn522Lys
ENST00000393631.5:c.1299T>G	ENSP00000377251.1:p.Asn433Lys
ENST00000460554.1:n.1668T>G
ENST00000462014.1:c.1470T>G	ENSP00000419414.1:p.Asn490Lys
NM_001199799.1:c.1566T>G	NP_001186728.1:p.Asn522Lys
NM_001199800.1:c.1299T>G	NP_001186729.1:p.Asn433Lys
NM_175924.3:c.1434T>G	NP_787120.1:p.Asn478Lys
XM_005247389.3:c.1470T>G	XP_005247446.1:p.Asn490Lys
XM_011512738.1:c.1558+8T>G	XP_011511040.1:n.1558+8T>G
XM_011512739.1:c.1029T>G	XP_011511041.1:p.Asn343Lys
XM_005247389.4:c.1470T>G	XP_005247446.1:p.Asn490Lys
XM_011512738.2:c.1558+8T>G	XP_011511040.1:n.1558+8T>G
XM_011512739.2:c.1029T>G	XP_011511041.1:p.Asn343Lys
NM_001199799.2:c.1566T>G MANE Select	NP_001186728.1:p.Asn522Lys
NM_001199800.2:c.1299T>G	NP_001186729.1:p.Asn433Lys
NM_175924.4:c.1434T>G	NP_787120.1:p.Asn478Lys