Canonical Allele Identifier: CA556485875

Gene: AGA-DT

Linked Data

• dbSNP Id: rs1277705184
• gnomAD v2: 4-178363737-T-G
• MyVariant Identifiers: chr4:g.178363737T>G (hg19) ; chr4:g.177442583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442583T>G , CM000666.2:g.177442583T>G	GRCh38
NC_000004.11:g.178363737T>G , CM000666.1:g.178363737T>G	GRCh37
NC_000004.10:g.178600731T>G	NCBI36
NG_011845.2:g.4921A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.82+2T>G