Canonical Allele Identifier: CA583938916

Gene: DPYS

Linked Data

• dbSNP Id: rs1342594460
• gnomAD v2: 8-105391538-A-G
• gnomAD v3: 8-104379310-A-G
• gnomAD v4: 8-104379310-A-G
• MyVariant Identifiers: chr8:g.105391538A>G (hg19) ; chr8:g.104379310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379310A>G , CM000670.2:g.104379310A>G	GRCh38
NC_000008.10:g.105391538A>G , CM000670.1:g.105391538A>G	GRCh37
NC_000008.9:g.105460714A>G	NCBI36
NG_008840.1:g.92740T>C
NG_008840.2:g.92740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1874T>C