Canonical Allele Identifier: CA1807671278
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1588388565
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379184T>C , CM000670.2:g.104379184T>C GRCh38
NC_000008.10:g.105391412T>C , CM000670.1:g.105391412T>C GRCh37
NC_000008.9:g.105460588T>C NCBI36
NG_008840.1:g.92866A>G
NG_008840.2:g.92866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2000A>G
Search 100 bp 5'
Search 100 bp 3'