Canonical Allele Identifier: CA1071332444
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1249497470
gnomAD v3: 4-177442560-C-T
gnomAD v4: 4-177442560-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442560C>T , CM000666.2:g.177442560C>T GRCh38
NC_000004.11:g.178363714C>T , CM000666.1:g.178363714C>T GRCh37
NC_000004.10:g.178600708C>T NCBI36
NG_011845.2:g.4944G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.61C>T
Search 100 bp 5'
Search 100 bp 3'