Canonical Allele Identifier: CA1117446116

Gene: DPYS

Linked Data

• dbSNP Id: rs1810956094
• gnomAD v3: 8-104379385-A-G
• gnomAD v4: 8-104379385-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379385A>G , CM000670.2:g.104379385A>G	GRCh38
NC_000008.10:g.105391613A>G , CM000670.1:g.105391613A>G	GRCh37
NC_000008.9:g.105460789A>G	NCBI36
NG_008840.1:g.92665T>C
NG_008840.2:g.92665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1799T>C