Canonical Allele Identifier: CA1117446173

Gene: DPYS

Linked Data

• dbSNP Id: rs1810958999
• gnomAD v3: 8-104379460-A-T
• gnomAD v4: 8-104379460-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379460A>T , CM000670.2:g.104379460A>T	GRCh38
NC_000008.10:g.105391688A>T , CM000670.1:g.105391688A>T	GRCh37
NC_000008.9:g.105460864A>T	NCBI36
NG_008840.1:g.92590T>A
NG_008840.2:g.92590T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*398T>A MANE Select	ENSP00000276651.2:n.*398T>A
ENST00000351513.6:c.*398T>A	ENSP00000276651.2:n.*398T>A
ENST00000520806.1:n.612T>A
ENST00000521601.1:n.328+1724T>A
NM_001385.2:c.*398T>A	NP_001376.1:n.*398T>A
XM_005250818.2:c.*398T>A	XP_005250875.1:n.*398T>A
XM_006716518.2:c.*398T>A	XP_006716581.1:n.*398T>A
XM_005250818.3:c.*398T>A	XP_005250875.1:n.*398T>A
XM_006716518.3:c.*398T>A	XP_006716581.1:n.*398T>A
XM_024447087.1:c.*935T>A	XP_024302855.1:n.*935T>A
XR_001745489.1:n.2557T>A
XR_001745490.2:n.2449T>A
NM_001385.3:c.*398T>A MANE Select	NP_001376.1:n.*398T>A