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Canonical Allele Identifier:
CA583939270
Gene: DPYS
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.104362428C>G
GRCh37
chr8:g.105374656C>G
Linked Data - Sequence & Population
gnomAD v2:
8:105374656 C / G
gnomAD v3:
8:104362428 C / G
gnomAD v4:
chr8-104362428-C-G
Joint Max Group AF
0.00009581 (AFR)
Genomes Max Group AF
0.00009581 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4734782
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.104362428C>G , CM000670.2:g.104362428C>G
GRCh38
NC_000008.10:g.105374656C>G , CM000670.1:g.105374656C>G
GRCh37
NC_000008.9:g.105443832C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000521601.1:n.328+18756G>C
Search 100 bp 5'
Search 100 bp 3'