Canonical Allele Identifier: CA583938913

Gene: DPYS

Linked Data

• dbSNP Id: rs1306438815
• gnomAD v2: 8-105391515-G-T
• gnomAD v3: 8-104379287-G-T
• gnomAD v4: 8-104379287-G-T
• MyVariant Identifiers: chr8:g.105391515G>T (hg19) ; chr8:g.104379287G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379287G>T , CM000670.2:g.104379287G>T	GRCh38
NC_000008.10:g.105391515G>T , CM000670.1:g.105391515G>T	GRCh37
NC_000008.9:g.105460691G>T	NCBI36
NG_008840.1:g.92763C>A
NG_008840.2:g.92763C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1897C>A