Canonical Allele Identifier: CA182608734
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1028784354
gnomAD v2: 8-105391389-G-A
gnomAD v3: 8-104379161-G-A
gnomAD v4: 8-104379161-G-A
MyVariant Identifiers: chr8:g.105391389G>A (hg19) chr8:g.104379161G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379161G>A , CM000670.2:g.104379161G>A GRCh38
NC_000008.10:g.105391389G>A , CM000670.1:g.105391389G>A GRCh37
NC_000008.9:g.105460565G>A NCBI36
NG_008840.1:g.92889C>T
NG_008840.2:g.92889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2023C>T
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Search 100 bp 3'