Canonical Allele Identifier: CA2672748709
Gene: AGA-DT HGNC NCBI

Linked Data

gnomAD v4: 4-177442588-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442588C>A , CM000666.2:g.177442588C>A GRCh38
NC_000004.11:g.178363742C>A , CM000666.1:g.178363742C>A GRCh37
NC_000004.10:g.178600736C>A NCBI36
NG_011845.2:g.4916G>T

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+7C>A
Search 100 bp 5'
Search 100 bp 3'