Canonical Allele Identifier: CA1515650285
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1169931298
gnomAD v4: 4-177442604-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442604C>T , CM000666.2:g.177442604C>T GRCh38
NC_000004.11:g.178363758C>T , CM000666.1:g.178363758C>T GRCh37
NC_000004.10:g.178600752C>T NCBI36
NG_011845.2:g.4900G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+23C>T
Search 100 bp 5'
Search 100 bp 3'