Canonical Allele Identifier: CA354143590

Gene: ILDR1

Linked Data

• dbSNP Id: rs776320185
• MyVariant Identifiers: chr3:g.121712448C>A (hg19) ; chr3:g.121993601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993601C>A , CM000665.2:g.121993601C>A	GRCh38
NC_000003.11:g.121712448C>A , CM000665.1:g.121712448C>A	GRCh37
NC_000003.10:g.123195138C>A	NCBI36
NG_031870.1:g.33680G>T
NG_031870.2:g.71954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1148G>T MANE Select	ENSP00000345667.5:p.Arg383Leu
ENST00000460554.2:n.1098G>T
ENST00000642615.1:c.*331G>T	ENSP00000495499.1:n.*331G>T
ENST00000273691.7:c.1016G>T	ENSP00000273691.3:p.Arg339Leu
ENST00000344209.9:c.1148G>T	ENSP00000345667.5:p.Arg383Leu
ENST00000393631.5:c.881G>T	ENSP00000377251.1:p.Arg294Leu
ENST00000460554.1:n.1250G>T
ENST00000462014.1:c.1052G>T	ENSP00000419414.1:p.Arg351Leu
NM_001199799.1:c.1148G>T	NP_001186728.1:p.Arg383Leu
NM_001199800.1:c.881G>T	NP_001186729.1:p.Arg294Leu
NM_175924.3:c.1016G>T	NP_787120.1:p.Arg339Leu
XM_005247389.3:c.1052G>T	XP_005247446.1:p.Arg351Leu
XM_011512738.1:c.1148G>T	XP_011511040.1:p.Arg383Leu
XM_011512739.1:c.611G>T	XP_011511041.1:p.Arg204Leu
XM_005247389.4:c.1052G>T	XP_005247446.1:p.Arg351Leu
XM_011512738.2:c.1148G>T	XP_011511040.1:p.Arg383Leu
XM_011512739.2:c.611G>T	XP_011511041.1:p.Arg204Leu
NM_001199799.2:c.1148G>T MANE Select	NP_001186728.1:p.Arg383Leu
NM_001199800.2:c.881G>T	NP_001186729.1:p.Arg294Leu
NM_175924.4:c.1016G>T	NP_787120.1:p.Arg339Leu