Canonical Allele Identifier: CA1052924573
Gene: ILDR1 HGNC NCBI

Linked Data

gnomAD v3: 3-122050599-C-A
gnomAD v4: 3-122050599-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050599C>A , CM000665.2:g.122050599C>A GRCh38
NC_000003.11:g.121769446C>A , CM000665.1:g.121769446C>A GRCh37
NC_000003.10:g.123252136C>A NCBI36
NG_029928.1:g.238C>A
NG_031870.2:g.14956G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9821G>T XP_011511041.1:n.-348+9821G>T
XM_011512739.2:c.-348+9821G>T XP_011511041.1:n.-348+9821G>T
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