Canonical Allele Identifier: CA2672748641
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs2111029405
gnomAD v4: 4-177442506-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442506A>C , CM000666.2:g.177442506A>C GRCh38
NC_000004.11:g.178363660A>C , CM000666.1:g.178363660A>C GRCh37
NC_000004.10:g.178600654A>C NCBI36
NG_011845.2:g.4998T>G

Transcript Alleles

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