Canonical Allele Identifier: CA545643243
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs989719129
gnomAD v2: 3-121769360-A-G
MyVariant Identifiers: chr3:g.121769360A>G (hg19) chr3:g.122050513A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050513A>G , CM000665.2:g.122050513A>G GRCh38
NC_000003.11:g.121769360A>G , CM000665.1:g.121769360A>G GRCh37
NC_000003.10:g.123252050A>G NCBI36
NG_029928.1:g.152A>G
NG_031870.2:g.15042T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9907T>C XP_011511041.1:n.-348+9907T>C
XM_011512739.2:c.-348+9907T>C XP_011511041.1:n.-348+9907T>C
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