Canonical Allele Identifier: CA182608811

Gene: DPYS

Linked Data

• dbSNP Id: rs145528141
• gnomAD v2: 8-105391630-G-A
• gnomAD v3: 8-104379402-G-A
• gnomAD v4: 8-104379402-G-A
• MyVariant Identifiers: chr8:g.105391630G>A (hg19) ; chr8:g.104379402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379402G>A , CM000670.2:g.104379402G>A	GRCh38
NC_000008.10:g.105391630G>A , CM000670.1:g.105391630G>A	GRCh37
NC_000008.9:g.105460806G>A	NCBI36
NG_008840.1:g.92648C>T
NG_008840.2:g.92648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521601.1:n.328+1782C>T