Canonical Allele Identifier: CA182608761

Gene: DPYS

Linked Data

• dbSNP Id: rs900621193
• gnomAD v2: 8-105391551-T-C
• gnomAD v3: 8-104379323-T-C
• gnomAD v4: 8-104379323-T-C
• MyVariant Identifiers: chr8:g.105391551T>C (hg19) ; chr8:g.104379323T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379323T>C , CM000670.2:g.104379323T>C	GRCh38
NC_000008.10:g.105391551T>C , CM000670.1:g.105391551T>C	GRCh37
NC_000008.9:g.105460727T>C	NCBI36
NG_008840.1:g.92727A>G
NG_008840.2:g.92727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1861A>G