Canonical Allele Identifier: CA1807671454
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379580C= , CM000670.2:g.104379580C= GRCh38
NC_000008.10:g.105391808C= , CM000670.1:g.105391808C= GRCh37
NC_000008.9:g.105460984C= NCBI36
NG_008840.1:g.92470G=
NG_008840.2:g.92470G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.*278G= MANE Select ENSP00000276651.2:n.*278G=
ENST00000351513.6:c.*278G= ENSP00000276651.2:n.*278G=
ENST00000520806.1:n.492G=
ENST00000521601.1:n.328+1604G=
ENST00000533874.1:c.337G=
NM_001385.2:c.*278G= NP_001376.1:n.*278G=
XM_005250818.2:c.*278G= XP_005250875.1:n.*278G=
XM_006716518.2:c.*278G= XP_006716581.1:n.*278G=
XM_005250818.3:c.*278G= XP_005250875.1:n.*278G=
XM_006716518.3:c.*278G= XP_006716581.1:n.*278G=
XM_024447087.1:c.*815G= XP_024302855.1:n.*815G=
XR_001745489.1:n.2437G=
XR_001745490.2:n.2329G=
NM_001385.3:c.*278G= MANE Select NP_001376.1:n.*278G=