Canonical Allele Identifier: CA354143813

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993610-A-T
• MyVariant Identifiers: chr3:g.121712457A>T (hg19) ; chr3:g.121993610A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993610A>T , CM000665.2:g.121993610A>T	GRCh38
NC_000003.11:g.121712457A>T , CM000665.1:g.121712457A>T	GRCh37
NC_000003.10:g.123195147A>T	NCBI36
NG_031870.1:g.33671T>A
NG_031870.2:g.71945T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1139T>A MANE Select	ENSP00000345667.5:p.Leu380His
ENST00000460554.2:n.1089T>A
ENST00000642615.1:c.*322T>A	ENSP00000495499.1:n.*322T>A
ENST00000273691.7:c.1007T>A	ENSP00000273691.3:p.Leu336His
ENST00000344209.9:c.1139T>A	ENSP00000345667.5:p.Leu380His
ENST00000393631.5:c.872T>A	ENSP00000377251.1:p.Leu291His
ENST00000460554.1:n.1241T>A
ENST00000462014.1:c.1043T>A	ENSP00000419414.1:p.Leu348His
NM_001199799.1:c.1139T>A	NP_001186728.1:p.Leu380His
NM_001199800.1:c.872T>A	NP_001186729.1:p.Leu291His
NM_175924.3:c.1007T>A	NP_787120.1:p.Leu336His
XM_005247389.3:c.1043T>A	XP_005247446.1:p.Leu348His
XM_011512738.1:c.1139T>A	XP_011511040.1:p.Leu380His
XM_011512739.1:c.602T>A	XP_011511041.1:p.Leu201His
XM_005247389.4:c.1043T>A	XP_005247446.1:p.Leu348His
XM_011512738.2:c.1139T>A	XP_011511040.1:p.Leu380His
XM_011512739.2:c.602T>A	XP_011511041.1:p.Leu201His
NM_001199799.2:c.1139T>A MANE Select	NP_001186728.1:p.Leu380His
NM_001199800.2:c.872T>A	NP_001186729.1:p.Leu291His
NM_175924.4:c.1007T>A	NP_787120.1:p.Leu336His