Canonical Allele Identifier: CA435423559

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993363-T-A
• MyVariant Identifiers: chr3:g.121712210T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993363T>A , CM000665.2:g.121993363T>A	GRCh38
NC_000003.11:g.121712210T>A , CM000665.1:g.121712210T>A	GRCh37
NC_000003.10:g.123194900T>A	NCBI36
NG_031870.1:g.33918A>T
NG_031870.2:g.72192A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1386A>T MANE Select	ENSP00000345667.5:p.Arg462=
ENST00000460554.2:n.1336A>T
ENST00000642615.1:c.*569A>T	ENSP00000495499.1:n.*569A>T
ENST00000273691.7:c.1254A>T	ENSP00000273691.3:p.Arg418=
ENST00000344209.9:c.1386A>T	ENSP00000345667.5:p.Arg462=
ENST00000393631.5:c.1119A>T	ENSP00000377251.1:p.Arg373=
ENST00000460554.1:n.1488A>T
ENST00000462014.1:c.1290A>T	ENSP00000419414.1:p.Arg430=
NM_001199799.1:c.1386A>T	NP_001186728.1:p.Arg462=
NM_001199800.1:c.1119A>T	NP_001186729.1:p.Arg373=
NM_175924.3:c.1254A>T	NP_787120.1:p.Arg418=
XM_005247389.3:c.1290A>T	XP_005247446.1:p.Arg430=
XM_011512738.1:c.1386A>T	XP_011511040.1:p.Arg462=
XM_011512739.1:c.849A>T	XP_011511041.1:p.Arg283=
XM_005247389.4:c.1290A>T	XP_005247446.1:p.Arg430=
XM_011512738.2:c.1386A>T	XP_011511040.1:p.Arg462=
XM_011512739.2:c.849A>T	XP_011511041.1:p.Arg283=
NM_001199799.2:c.1386A>T MANE Select	NP_001186728.1:p.Arg462=
NM_001199800.2:c.1119A>T	NP_001186729.1:p.Arg373=
NM_175924.4:c.1254A>T	NP_787120.1:p.Arg418=