Canonical Allele Identifier: CA583938912

Gene: DPYS

Linked Data

• dbSNP Id: rs1275715176
• gnomAD v2: 8-105391508-C-G
• gnomAD v3: 8-104379280-C-G
• gnomAD v4: 8-104379280-C-G
• MyVariant Identifiers: chr8:g.105391508C>G (hg19) ; chr8:g.104379280C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379280C>G , CM000670.2:g.104379280C>G	GRCh38
NC_000008.10:g.105391508C>G , CM000670.1:g.105391508C>G	GRCh37
NC_000008.9:g.105460684C>G	NCBI36
NG_008840.1:g.92770G>C
NG_008840.2:g.92770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1904G>C