Canonical Allele Identifier: CA556485846

Gene: AGA-DT

Linked Data

• dbSNP Id: rs1206655251
• gnomAD v2: 4-178363658-C-G
• gnomAD v3: 4-177442504-C-G
• gnomAD v4: 4-177442504-C-G
• MyVariant Identifiers: chr4:g.178363658C>G (hg19) ; chr4:g.177442504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442504C>G , CM000666.2:g.177442504C>G	GRCh38
NC_000004.11:g.178363658C>G , CM000666.1:g.178363658C>G	GRCh37
NC_000004.10:g.178600652C>G	NCBI36
NG_011845.2:g.5000G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.5C>G