Canonical Allele Identifier: CA791504390

Gene: AGA-DT

Linked Data

• dbSNP Id: rs1394817886
• MyVariant Identifiers: chr4:g.178363742C>T (hg19) ; chr4:g.177442588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442588C>T , CM000666.2:g.177442588C>T	GRCh38
NC_000004.11:g.178363742C>T , CM000666.1:g.178363742C>T	GRCh37
NC_000004.10:g.178600736C>T	NCBI36
NG_011845.2:g.4916G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.82+7C>T