Canonical Allele Identifier: CA1807671391
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379440G= , CM000670.2:g.104379440G= GRCh38
NC_000008.10:g.105391668G= , CM000670.1:g.105391668G= GRCh37
NC_000008.9:g.105460844G= NCBI36
NG_008840.1:g.92610C=
NG_008840.2:g.92610C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.*418C= MANE Select ENSP00000276651.2:n.*418C=
ENST00000351513.6:c.*418C= ENSP00000276651.2:n.*418C=
ENST00000520806.1:n.632C=
ENST00000521601.1:n.328+1744C=
NM_001385.2:c.*418C= NP_001376.1:n.*418C=
XM_005250818.2:c.*418C= XP_005250875.1:n.*418C=
XM_006716518.2:c.*418C= XP_006716581.1:n.*418C=
XM_005250818.3:c.*418C= XP_005250875.1:n.*418C=
XM_006716518.3:c.*418C= XP_006716581.1:n.*418C=
XM_024447087.1:c.*955C= XP_024302855.1:n.*955C=
XR_001745489.1:n.2577C=
XR_001745490.2:n.2469C=
NM_001385.3:c.*418C= MANE Select NP_001376.1:n.*418C=