Canonical Allele Identifier: CA3147146

Gene: AGA-DT

Linked Data

• dbSNP Id: rs756700030
• ExAC: 4:178363663 C / T
• gnomAD v4: 4-177442509-C-T
• MyVariant Identifiers: chr4:g.178363663C>T (hg19) ; chr4:g.177442509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442509C>T , CM000666.2:g.177442509C>T	GRCh38
NC_000004.11:g.178363663C>T , CM000666.1:g.178363663C>T	GRCh37
NC_000004.10:g.178600657C>T	NCBI36
NG_011845.2:g.4995G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.10C>T