Canonical Allele Identifier: CA2672748679
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs2111029585
gnomAD v4: 4-177442558-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442558C>T , CM000666.2:g.177442558C>T GRCh38
NC_000004.11:g.178363712C>T , CM000666.1:g.178363712C>T GRCh37
NC_000004.10:g.178600706C>T NCBI36
NG_011845.2:g.4946G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.59C>T
Search 100 bp 5'
Search 100 bp 3'