Canonical Allele Identifier: CA844969547

Gene: DPYS

Linked Data

• dbSNP Id: rs1189475554
• MyVariant Identifiers: chr8:g.105391611C>G (hg19) ; chr8:g.104379383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379383C>G , CM000670.2:g.104379383C>G	GRCh38
NC_000008.10:g.105391611C>G , CM000670.1:g.105391611C>G	GRCh37
NC_000008.9:g.105460787C>G	NCBI36
NG_008840.1:g.92667G>C
NG_008840.2:g.92667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1801G>C