Canonical Allele Identifier: CA898088807

Gene: ILDR1

Linked Data

• dbSNP Id: rs1288547175
• gnomAD v3: 3-122050485-C-T
• gnomAD v4: 3-122050485-C-T
• MyVariant Identifiers: chr3:g.121769332C>T (hg19) ; chr3:g.122050485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050485C>T , CM000665.2:g.122050485C>T	GRCh38
NC_000003.11:g.121769332C>T , CM000665.1:g.121769332C>T	GRCh37
NC_000003.10:g.123252022C>T	NCBI36
NG_029928.1:g.124C>T
NG_031870.2:g.15070G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9935G>A	XP_011511041.1:n.-348+9935G>A
XM_011512739.2:c.-348+9935G>A	XP_011511041.1:n.-348+9935G>A