Canonical Allele Identifier: CA1052924386
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs2072164284
gnomAD v3: 3-122050389-T-C
gnomAD v4: 3-122050389-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050389T>C , CM000665.2:g.122050389T>C GRCh38
NC_000003.11:g.121769236T>C , CM000665.1:g.121769236T>C GRCh37
NC_000003.10:g.123251926T>C NCBI36
NG_029928.1:g.28T>C
NG_031870.2:g.15166A>G

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+10031A>G XP_011511041.1:n.-348+10031A>G
XM_011512739.2:c.-348+10031A>G XP_011511041.1:n.-348+10031A>G
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