Canonical Allele Identifier: CA371940138

Gene: DPYS

Linked Data

• MyVariant Identifiers: chr8:g.105440222A>T (hg19) ; chr8:g.104427994A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104427994A>T , CM000670.2:g.104427994A>T	GRCh38
NC_000008.10:g.105440222A>T , CM000670.1:g.105440222A>T	GRCh37
NC_000008.9:g.105509398A>T	NCBI36
NG_008840.1:g.44056T>A
NG_008840.2:g.44056T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.1078T>A MANE Select	ENSP00000276651.2:p.Trp360Arg
ENST00000351513.6:c.1078T>A	ENSP00000276651.2:p.Trp360Arg
NM_001385.2:c.1078T>A	NP_001376.1:p.Trp360Arg
XM_005250818.2:c.1078T>A	XP_005250875.1:p.Trp360Arg
XM_006716518.2:c.919T>A	XP_006716581.1:p.Trp307Arg
XM_011516903.1:c.1078T>A	XP_011515205.1:p.Trp360Arg
XM_011516904.1:c.1078T>A	XP_011515206.1:p.Trp360Arg
XM_005250818.3:c.1078T>A	XP_005250875.1:p.Trp360Arg
XM_006716518.3:c.919T>A	XP_006716581.1:p.Trp307Arg
XM_011516903.3:c.1078T>A	XP_011515205.1:p.Trp360Arg
XM_017013167.2:c.1078T>A	XP_016868656.1:p.Trp360Arg
XM_024447087.1:c.1078T>A	XP_024302855.1:p.Trp360Arg
XR_001745489.1:n.1232T>A
XR_001745490.2:n.1232T>A
NM_001385.3:c.1078T>A MANE Select	NP_001376.1:p.Trp360Arg