Canonical Allele Identifier: CA354143584

Gene: ILDR1

Linked Data

• dbSNP Id: rs1247853920
• gnomAD v2: 3-121712445-C-T
• gnomAD v4: 3-121993598-C-T
• MyVariant Identifiers: chr3:g.121712445C>T (hg19) ; chr3:g.121993598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993598C>T , CM000665.2:g.121993598C>T	GRCh38
NC_000003.11:g.121712445C>T , CM000665.1:g.121712445C>T	GRCh37
NC_000003.10:g.123195135C>T	NCBI36
NG_031870.1:g.33683G>A
NG_031870.2:g.71957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1151G>A MANE Select	ENSP00000345667.5:p.Gly384Glu
ENST00000460554.2:n.1101G>A
ENST00000642615.1:c.*334G>A	ENSP00000495499.1:n.*334G>A
ENST00000273691.7:c.1019G>A	ENSP00000273691.3:p.Gly340Glu
ENST00000344209.9:c.1151G>A	ENSP00000345667.5:p.Gly384Glu
ENST00000393631.5:c.884G>A	ENSP00000377251.1:p.Gly295Glu
ENST00000460554.1:n.1253G>A
ENST00000462014.1:c.1055G>A	ENSP00000419414.1:p.Gly352Glu
NM_001199799.1:c.1151G>A	NP_001186728.1:p.Gly384Glu
NM_001199800.1:c.884G>A	NP_001186729.1:p.Gly295Glu
NM_175924.3:c.1019G>A	NP_787120.1:p.Gly340Glu
XM_005247389.3:c.1055G>A	XP_005247446.1:p.Gly352Glu
XM_011512738.1:c.1151G>A	XP_011511040.1:p.Gly384Glu
XM_011512739.1:c.614G>A	XP_011511041.1:p.Gly205Glu
XM_005247389.4:c.1055G>A	XP_005247446.1:p.Gly352Glu
XM_011512738.2:c.1151G>A	XP_011511040.1:p.Gly384Glu
XM_011512739.2:c.614G>A	XP_011511041.1:p.Gly205Glu
NM_001199799.2:c.1151G>A MANE Select	NP_001186728.1:p.Gly384Glu
NM_001199800.2:c.884G>A	NP_001186729.1:p.Gly295Glu
NM_175924.4:c.1019G>A	NP_787120.1:p.Gly340Glu