Canonical Allele Identifier: CA1117446091
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1810953688
gnomAD v3: 8-104379322-G-A
gnomAD v4: 8-104379322-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379322G>A , CM000670.2:g.104379322G>A GRCh38
NC_000008.10:g.105391550G>A , CM000670.1:g.105391550G>A GRCh37
NC_000008.9:g.105460726G>A NCBI36
NG_008840.1:g.92728C>T
NG_008840.2:g.92728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1862C>T
Search 100 bp 5'
Search 100 bp 3'