Canonical Allele Identifier: CA1515650304
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1737086159
gnomAD v3: 4-177442628-G-A
gnomAD v4: 4-177442628-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442628G>A , CM000666.2:g.177442628G>A GRCh38
NC_000004.11:g.178363782G>A , CM000666.1:g.178363782G>A GRCh37
NC_000004.10:g.178600776G>A NCBI36
NG_011845.2:g.4876C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+47G>A
Search 100 bp 5'
Search 100 bp 3'