Canonical Allele Identifier: CA3147148

Gene: AGA-DT

Linked Data

• dbSNP Id: rs748854923
• ExAC: 4:178363670 G / T
• gnomAD v2: 4-178363670-G-T
• gnomAD v3: 4-177442516-G-T
• gnomAD v4: 4-177442516-G-T
• MyVariant Identifiers: chr4:g.178363670G>T (hg19) ; chr4:g.177442516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442516G>T , CM000666.2:g.177442516G>T	GRCh38
NC_000004.11:g.178363670G>T , CM000666.1:g.178363670G>T	GRCh37
NC_000004.10:g.178600664G>T	NCBI36
NG_011845.2:g.4988C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.17G>T