Canonical Allele Identifier: CA1117446090
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1810953360
gnomAD v3: 8-104379315-T-G
gnomAD v4: 8-104379315-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379315T>G , CM000670.2:g.104379315T>G GRCh38
NC_000008.10:g.105391543T>G , CM000670.1:g.105391543T>G GRCh37
NC_000008.9:g.105460719T>G NCBI36
NG_008840.1:g.92735A>C
NG_008840.2:g.92735A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1869A>C
Search 100 bp 5'
Search 100 bp 3'