Canonical Allele Identifier: CA1117446120
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1810957689
gnomAD v3: 8-104379419-G-T
gnomAD v4: 8-104379419-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379419G>T , CM000670.2:g.104379419G>T GRCh38
NC_000008.10:g.105391647G>T , CM000670.1:g.105391647G>T GRCh37
NC_000008.9:g.105460823G>T NCBI36
NG_008840.1:g.92631C>A
NG_008840.2:g.92631C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1765C>A
Search 100 bp 5'
Search 100 bp 3'