Canonical Allele Identifier: CA2688213184

Gene: DPYS

Linked Data

• gnomAD v4: 8-104379470-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379470G>T , CM000670.2:g.104379470G>T	GRCh38
NC_000008.10:g.105391698G>T , CM000670.1:g.105391698G>T	GRCh37
NC_000008.9:g.105460874G>T	NCBI36
NG_008840.1:g.92580C>A
NG_008840.2:g.92580C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*388C>A MANE Select	ENSP00000276651.2:n.*388C>A
ENST00000351513.6:c.*388C>A	ENSP00000276651.2:n.*388C>A
ENST00000520806.1:n.602C>A
ENST00000521601.1:n.328+1714C>A
NM_001385.2:c.*388C>A	NP_001376.1:n.*388C>A
XM_005250818.2:c.*388C>A	XP_005250875.1:n.*388C>A
XM_006716518.2:c.*388C>A	XP_006716581.1:n.*388C>A
XM_005250818.3:c.*388C>A	XP_005250875.1:n.*388C>A
XM_006716518.3:c.*388C>A	XP_006716581.1:n.*388C>A
XM_024447087.1:c.*925C>A	XP_024302855.1:n.*925C>A
XR_001745489.1:n.2547C>A
XR_001745490.2:n.2439C>A
NM_001385.3:c.*388C>A MANE Select	NP_001376.1:n.*388C>A