Canonical Allele Identifier: CA556485876

Gene: AGA-DT

Linked Data

• dbSNP Id: rs1372516911
• gnomAD v2: 4-178363740-T-C
• gnomAD v3: 4-177442586-T-C
• gnomAD v4: 4-177442586-T-C
• MyVariant Identifiers: chr4:g.178363740T>C (hg19) ; chr4:g.177442586T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442586T>C , CM000666.2:g.177442586T>C	GRCh38
NC_000004.11:g.178363740T>C , CM000666.1:g.178363740T>C	GRCh37
NC_000004.10:g.178600734T>C	NCBI36
NG_011845.2:g.4918A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.82+5T>C