Canonical Allele Identifier: CA1515650261
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1277705184
gnomAD v4: 4-177442583-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442583T>C , CM000666.2:g.177442583T>C GRCh38
NC_000004.11:g.178363737T>C , CM000666.1:g.178363737T>C GRCh37
NC_000004.10:g.178600731T>C NCBI36
NG_011845.2:g.4921A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+2T>C
Search 100 bp 5'
Search 100 bp 3'