Canonical Allele Identifier: CA2606722845

Gene: AGA-DT

Linked Data

• dbSNP Id: rs2111029782
• gnomAD v3: 4-177442681-T-G
• gnomAD v4: 4-177442681-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442681T>G , CM000666.2:g.177442681T>G	GRCh38
NC_000004.11:g.178363835T>G , CM000666.1:g.178363835T>G	GRCh37
NC_000004.10:g.178600829T>G	NCBI36
NG_011845.2:g.4823A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.82+100T>G