Canonical Allele Identifier: CA82734659

Gene: ILDR1

Linked Data

• dbSNP Id: rs771335457
• gnomAD v4: 3-121993264-G-A
• MyVariant Identifiers: chr3:g.121712111G>A (hg19) ; chr3:g.121993264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993264G>A , CM000665.2:g.121993264G>A	GRCh38
NC_000003.11:g.121712111G>A , CM000665.1:g.121712111G>A	GRCh37
NC_000003.10:g.123194801G>A	NCBI36
NG_031870.1:g.34017C>T
NG_031870.2:g.72291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1485C>T MANE Select	ENSP00000345667.5:p.His495=
ENST00000460554.2:n.1435C>T
ENST00000642615.1:c.*668C>T	ENSP00000495499.1:n.*668C>T
ENST00000273691.7:c.1353C>T	ENSP00000273691.3:p.His451=
ENST00000344209.9:c.1485C>T	ENSP00000345667.5:p.His495=
ENST00000393631.5:c.1218C>T	ENSP00000377251.1:p.His406=
ENST00000460554.1:n.1587C>T
ENST00000462014.1:c.1389C>T	ENSP00000419414.1:p.His463=
NM_001199799.1:c.1485C>T	NP_001186728.1:p.His495=
NM_001199800.1:c.1218C>T	NP_001186729.1:p.His406=
NM_175924.3:c.1353C>T	NP_787120.1:p.His451=
XM_005247389.3:c.1389C>T	XP_005247446.1:p.His463=
XM_011512738.1:c.1485C>T	XP_011511040.1:p.His495=
XM_011512739.1:c.948C>T	XP_011511041.1:p.His316=
XM_005247389.4:c.1389C>T	XP_005247446.1:p.His463=
XM_011512738.2:c.1485C>T	XP_011511040.1:p.His495=
XM_011512739.2:c.948C>T	XP_011511041.1:p.His316=
NM_001199799.2:c.1485C>T MANE Select	NP_001186728.1:p.His495=
NM_001199800.2:c.1218C>T	NP_001186729.1:p.His406=
NM_175924.4:c.1353C>T	NP_787120.1:p.His451=