Canonical Allele Identifier: CA2688213146
Gene: DPYS HGNC NCBI

Linked Data

gnomAD v4: 8-104379308-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379308C>T , CM000670.2:g.104379308C>T GRCh38
NC_000008.10:g.105391536C>T , CM000670.1:g.105391536C>T GRCh37
NC_000008.9:g.105460712C>T NCBI36
NG_008840.1:g.92742G>A
NG_008840.2:g.92742G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1876G>A
Search 100 bp 5'
Search 100 bp 3'