Canonical Allele Identifier: CA371939787

Gene: DPYS

Linked Data

• MyVariant Identifiers: chr8:g.105436575T>G (hg19) ; chr8:g.104424347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104424347T>G , CM000670.2:g.104424347T>G	GRCh38
NC_000008.10:g.105436575T>G , CM000670.1:g.105436575T>G	GRCh37
NC_000008.9:g.105505751T>G	NCBI36
NG_008840.1:g.47703A>C
NG_008840.2:g.47703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.1135A>C MANE Select	ENSP00000276651.2:p.Ser379Arg
ENST00000351513.6:c.1135A>C	ENSP00000276651.2:p.Ser379Arg
NM_001385.2:c.1135A>C	NP_001376.1:p.Ser379Arg
XM_005250818.2:c.1135A>C	XP_005250875.1:p.Ser379Arg
XM_006716518.2:c.976A>C	XP_006716581.1:p.Ser326Arg
XM_011516903.1:c.1135A>C	XP_011515205.1:p.Ser379Arg
XM_011516904.1:c.1135A>C	XP_011515206.1:p.Ser379Arg
XM_005250818.3:c.1135A>C	XP_005250875.1:p.Ser379Arg
XM_006716518.3:c.976A>C	XP_006716581.1:p.Ser326Arg
XM_011516903.3:c.1135A>C	XP_011515205.1:p.Ser379Arg
XM_017013167.2:c.1135A>C	XP_016868656.1:p.Ser379Arg
XM_024447087.1:c.1135A>C	XP_024302855.1:p.Ser379Arg
XR_001745489.1:n.1289A>C
XR_001745490.2:n.1289A>C
NM_001385.3:c.1135A>C MANE Select	NP_001376.1:p.Ser379Arg