Canonical Allele Identifier: CA354144005

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712542G>T (hg19) ; chr3:g.121993695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993695G>T , CM000665.2:g.121993695G>T	GRCh38
NC_000003.11:g.121712542G>T , CM000665.1:g.121712542G>T	GRCh37
NC_000003.10:g.123195232G>T	NCBI36
NG_031870.1:g.33586C>A
NG_031870.2:g.71860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1054C>A MANE Select	ENSP00000345667.5:p.Gln352Lys
ENST00000460554.2:n.1004C>A
ENST00000642615.1:c.*237C>A	ENSP00000495499.1:n.*237C>A
ENST00000273691.7:c.922C>A	ENSP00000273691.3:p.Gln308Lys
ENST00000344209.9:c.1054C>A	ENSP00000345667.5:p.Gln352Lys
ENST00000393631.5:c.787C>A	ENSP00000377251.1:p.Gln263Lys
ENST00000460554.1:n.1156C>A
ENST00000462014.1:c.958C>A	ENSP00000419414.1:p.Gln320Lys
NM_001199799.1:c.1054C>A	NP_001186728.1:p.Gln352Lys
NM_001199800.1:c.787C>A	NP_001186729.1:p.Gln263Lys
NM_175924.3:c.922C>A	NP_787120.1:p.Gln308Lys
XM_005247389.3:c.958C>A	XP_005247446.1:p.Gln320Lys
XM_011512738.1:c.1054C>A	XP_011511040.1:p.Gln352Lys
XM_011512739.1:c.517C>A	XP_011511041.1:p.Gln173Lys
XM_005247389.4:c.958C>A	XP_005247446.1:p.Gln320Lys
XM_011512738.2:c.1054C>A	XP_011511040.1:p.Gln352Lys
XM_011512739.2:c.517C>A	XP_011511041.1:p.Gln173Lys
NM_001199799.2:c.1054C>A MANE Select	NP_001186728.1:p.Gln352Lys
NM_001199800.2:c.787C>A	NP_001186729.1:p.Gln263Lys
NM_175924.4:c.922C>A	NP_787120.1:p.Gln308Lys