Canonical Allele Identifier: CA844969488
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs1166010338
gnomAD v3: 8-104379182-C-G
gnomAD v4: 8-104379182-C-G
MyVariant Identifiers: chr8:g.105391410C>G (hg19) chr8:g.104379182C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379182C>G , CM000670.2:g.104379182C>G GRCh38
NC_000008.10:g.105391410C>G , CM000670.1:g.105391410C>G GRCh37
NC_000008.9:g.105460586C>G NCBI36
NG_008840.1:g.92868G>C
NG_008840.2:g.92868G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+2002G>C
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