Canonical Allele Identifier: CA435423916

Gene: ILDR1

Linked Data

• dbSNP Id: rs2071392402
• gnomAD v3: 3-121993708-G-A
• gnomAD v4: 3-121993708-G-A
• MyVariant Identifiers: chr3:g.121712555G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993708G>A , CM000665.2:g.121993708G>A	GRCh38
NC_000003.11:g.121712555G>A , CM000665.1:g.121712555G>A	GRCh37
NC_000003.10:g.123195245G>A	NCBI36
NG_031870.1:g.33573C>T
NG_031870.2:g.71847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1041C>T MANE Select	ENSP00000345667.5:p.Asp347=
ENST00000460554.2:n.991C>T
ENST00000642615.1:c.*224C>T	ENSP00000495499.1:n.*224C>T
ENST00000273691.7:c.909C>T	ENSP00000273691.3:p.Asp303=
ENST00000344209.9:c.1041C>T	ENSP00000345667.5:p.Asp347=
ENST00000393631.5:c.774C>T	ENSP00000377251.1:p.Asp258=
ENST00000460554.1:n.1143C>T
ENST00000462014.1:c.945C>T	ENSP00000419414.1:p.Asp315=
NM_001199799.1:c.1041C>T	NP_001186728.1:p.Asp347=
NM_001199800.1:c.774C>T	NP_001186729.1:p.Asp258=
NM_175924.3:c.909C>T	NP_787120.1:p.Asp303=
XM_005247389.3:c.945C>T	XP_005247446.1:p.Asp315=
XM_011512738.1:c.1041C>T	XP_011511040.1:p.Asp347=
XM_011512739.1:c.504C>T	XP_011511041.1:p.Asp168=
XM_005247389.4:c.945C>T	XP_005247446.1:p.Asp315=
XM_011512738.2:c.1041C>T	XP_011511040.1:p.Asp347=
XM_011512739.2:c.504C>T	XP_011511041.1:p.Asp168=
NM_001199799.2:c.1041C>T MANE Select	NP_001186728.1:p.Asp347=
NM_001199800.2:c.774C>T	NP_001186729.1:p.Asp258=
NM_175924.4:c.909C>T	NP_787120.1:p.Asp303=