Canonical Allele Identifier: CA791504343

Gene: AGA-DT

Linked Data

• dbSNP Id: rs1214019295
• gnomAD v3: 4-177442555-G-C
• gnomAD v4: 4-177442555-G-C
• MyVariant Identifiers: chr4:g.178363709G>C (hg19) ; chr4:g.177442555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442555G>C , CM000666.2:g.177442555G>C	GRCh38
NC_000004.11:g.178363709G>C , CM000666.1:g.178363709G>C	GRCh37
NC_000004.10:g.178600703G>C	NCBI36
NG_011845.2:g.4949C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001741929.1:n.56G>C