Canonical Allele Identifier: CA182608742
Gene: DPYS HGNC NCBI

Linked Data

dbSNP Id: rs930904043
gnomAD v2: 8-105391434-T-C
gnomAD v3: 8-104379206-T-C
gnomAD v4: 8-104379206-T-C
MyVariant Identifiers: chr8:g.105391434T>C (hg19) chr8:g.104379206T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379206T>C , CM000670.2:g.104379206T>C GRCh38
NC_000008.10:g.105391434T>C , CM000670.1:g.105391434T>C GRCh37
NC_000008.9:g.105460610T>C NCBI36
NG_008840.1:g.92844A>G
NG_008840.2:g.92844A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521601.1:n.328+1978A>G
Search 100 bp 5'
Search 100 bp 3'