Canonical Allele Identifier: CA545643242
Gene: ILDR1 HGNC NCBI

Linked Data

gnomAD v2: 3-121769323-T-C
MyVariant Identifiers: chr3:g.121769323T>C (hg19) chr3:g.122050476T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050476T>C , CM000665.2:g.122050476T>C GRCh38
NC_000003.11:g.121769323T>C , CM000665.1:g.121769323T>C GRCh37
NC_000003.10:g.123252013T>C NCBI36
NG_029928.1:g.115T>C
NG_031870.2:g.15079A>G

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9944A>G XP_011511041.1:n.-348+9944A>G
XM_011512739.2:c.-348+9944A>G XP_011511041.1:n.-348+9944A>G
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