Canonical Allele Identifier: CA228223

Gene: DPYS

Linked Data

• ClinVar Variation Id: 100147
• ClinVar RCV Id: RCV000086530 ; RCV001159708
• dbSNP Id: rs672601293
• ExAC: 8:105478880 G / A
• gnomAD v2: 8-105478880-G-A
• gnomAD v3: 8-104466652-G-A
• gnomAD v4: 8-104466652-G-A
• MyVariant Identifiers: chr8:g.105478880G>A (hg19) ; chr8:g.104466652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466652G>A , CM000670.2:g.104466652G>A	GRCh38
NC_000008.10:g.105478880G>A , CM000670.1:g.105478880G>A	GRCh37
NC_000008.9:g.105548056G>A	NCBI36
NG_008840.1:g.5398C>T
NG_008840.2:g.5398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.264+5C>T MANE Select	ENSP00000276651.2:n.264+5C>T
ENST00000351513.6:c.264+5C>T	ENSP00000276651.2:n.264+5C>T
ENST00000521573.2:c.264+5C>T	ENSP00000430246.2:n.264+5C>T
NM_001385.2:c.264+5C>T	NP_001376.1:n.264+5C>T
XM_005250818.2:c.264+5C>T	XP_005250875.1:n.264+5C>T
XM_006716518.2:c.264+5C>T	XP_006716581.1:n.264+5C>T
XM_011516903.1:c.264+5C>T	XP_011515205.1:n.264+5C>T
XM_011516904.1:c.264+5C>T	XP_011515206.1:n.264+5C>T
XR_928507.1:n.112+665G>A
XM_005250818.3:c.264+5C>T	XP_005250875.1:n.264+5C>T
XM_006716518.3:c.264+5C>T	XP_006716581.1:n.264+5C>T
XM_011516903.3:c.264+5C>T	XP_011515205.1:n.264+5C>T
XM_017013167.2:c.264+5C>T	XP_016868656.1:n.264+5C>T
XM_024447087.1:c.264+5C>T	XP_024302855.1:n.264+5C>T
XR_001745489.1:n.418+5C>T
XR_001745490.2:n.418+5C>T
XR_928507.2:n.233+665G>A
NM_001385.3:c.264+5C>T MANE Select	NP_001376.1:n.264+5C>T