Canonical Allele Identifier: CA1052924394
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs2072164563
gnomAD v3: 3-122050394-T-G
gnomAD v4: 3-122050394-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050394T>G , CM000665.2:g.122050394T>G GRCh38
NC_000003.11:g.121769241T>G , CM000665.1:g.121769241T>G GRCh37
NC_000003.10:g.123251931T>G NCBI36
NG_029928.1:g.33T>G
NG_031870.2:g.15161A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+10026A>C XP_011511041.1:n.-348+10026A>C
XM_011512739.2:c.-348+10026A>C XP_011511041.1:n.-348+10026A>C
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