Canonical Allele Identifier: CA1807671429
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379515A= , CM000670.2:g.104379515A= GRCh38
NC_000008.10:g.105391743A= , CM000670.1:g.105391743A= GRCh37
NC_000008.9:g.105460919A= NCBI36
NG_008840.1:g.92535T=
NG_008840.2:g.92535T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.*343T= MANE Select ENSP00000276651.2:n.*343T=
ENST00000351513.6:c.*343T= ENSP00000276651.2:n.*343T=
ENST00000520806.1:n.557T=
ENST00000521601.1:n.328+1669T=
ENST00000533874.1:c.402T=
NM_001385.2:c.*343T= NP_001376.1:n.*343T=
XM_005250818.2:c.*343T= XP_005250875.1:n.*343T=
XM_006716518.2:c.*343T= XP_006716581.1:n.*343T=
XM_005250818.3:c.*343T= XP_005250875.1:n.*343T=
XM_006716518.3:c.*343T= XP_006716581.1:n.*343T=
XM_024447087.1:c.*880T= XP_024302855.1:n.*880T=
XR_001745489.1:n.2502T=
XR_001745490.2:n.2394T=
NM_001385.3:c.*343T= MANE Select NP_001376.1:n.*343T=