Canonical Allele Identifier: CA1117446052
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1218777275
gnomAD v3: 8-104379138-T-C
gnomAD v4: 8-104379138-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379138T>C , CM000670.2:g.104379138T>C GRCh38
NC_000008.10:g.105391366T>C , CM000670.1:g.105391366T>C GRCh37
NC_000008.9:g.105460542T>C NCBI36
NG_008840.1:g.92912A>G
NG_008840.2:g.92912A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2046A>G
Search 100 bp 5'
Search 100 bp 3'