Canonical Allele Identifier: CA182608753

Gene: DPYS

Linked Data

• dbSNP Id: rs372914789
• gnomAD v3: 8-104379260-C-A
• gnomAD v4: 8-104379260-C-A
• MyVariant Identifiers: chr8:g.105391488C>A (hg19) ; chr8:g.104379260C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379260C>A , CM000670.2:g.104379260C>A	GRCh38
NC_000008.10:g.105391488C>A , CM000670.1:g.105391488C>A	GRCh37
NC_000008.9:g.105460664C>A	NCBI36
NG_008840.1:g.92790G>T
NG_008840.2:g.92790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1924G>T