Canonical Allele Identifier: CA2688213194

Gene: DPYS

Linked Data

• gnomAD v4: 8-104379537-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379537G>A , CM000670.2:g.104379537G>A	GRCh38
NC_000008.10:g.105391765G>A , CM000670.1:g.105391765G>A	GRCh37
NC_000008.9:g.105460941G>A	NCBI36
NG_008840.1:g.92513C>T
NG_008840.2:g.92513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*321C>T MANE Select	ENSP00000276651.2:n.*321C>T
ENST00000351513.6:c.*321C>T	ENSP00000276651.2:n.*321C>T
ENST00000520806.1:n.535C>T
ENST00000521601.1:n.328+1647C>T
ENST00000533874.1:c.380C>T
NM_001385.2:c.*321C>T	NP_001376.1:n.*321C>T
XM_005250818.2:c.*321C>T	XP_005250875.1:n.*321C>T
XM_006716518.2:c.*321C>T	XP_006716581.1:n.*321C>T
XM_005250818.3:c.*321C>T	XP_005250875.1:n.*321C>T
XM_006716518.3:c.*321C>T	XP_006716581.1:n.*321C>T
XM_024447087.1:c.*858C>T	XP_024302855.1:n.*858C>T
XR_001745489.1:n.2480C>T
XR_001745490.2:n.2372C>T
NM_001385.3:c.*321C>T MANE Select	NP_001376.1:n.*321C>T