Canonical Allele Identifier: CA583938911
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1416252325
gnomAD v2: 8-105391481-C-T
gnomAD v3: 8-104379253-C-T
gnomAD v4: 8-104379253-C-T
MyVariant Identifiers: chr8:g.105391481C>T (hg19) chr8:g.104379253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379253C>T , CM000670.2:g.104379253C>T GRCh38
NC_000008.10:g.105391481C>T , CM000670.1:g.105391481C>T GRCh37
NC_000008.9:g.105460657C>T NCBI36
NG_008840.1:g.92797G>A
NG_008840.2:g.92797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1931G>A
Search 100 bp 5'
Search 100 bp 3'