Canonical Allele Identifier: CA2672748715
Gene: AGA-DT HGNC NCBI

Linked Data

gnomAD v4: 4-177442596-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442596G>T , CM000666.2:g.177442596G>T GRCh38
NC_000004.11:g.178363750G>T , CM000666.1:g.178363750G>T GRCh37
NC_000004.10:g.178600744G>T NCBI36
NG_011845.2:g.4908C>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+15G>T
Search 100 bp 5'
Search 100 bp 3'