Canonical Allele Identifier: CA4838621

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466712A>G , CM000670.2:g.104466712A>G	GRCh38
NC_000008.10:g.105478940A>G , CM000670.1:g.105478940A>G	GRCh37
NC_000008.9:g.105548116A>G	NCBI36
NG_008840.1:g.5338T>C
NG_008840.2:g.5338T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.209T>C MANE Select	NP_001376.1:p.Met70Thr
ENST00000351513.7:c.209T>C MANE Select	ENSP00000276651.2:p.Met70Thr
NM_001385.2:c.209T>C	NP_001376.1:p.Met70Thr
ENST00000351513.6:c.209T>C	ENSP00000276651.2:p.Met70Thr
ENST00000521573.2:c.209T>C	ENSP00000430246.2:p.Met70Thr
XM_005250818.2:c.209T>C	XP_005250875.1:p.Met70Thr
XM_005250818.3:c.209T>C	XP_005250875.1:p.Met70Thr
XM_006716518.2:c.209T>C	XP_006716581.1:p.Met70Thr
XM_006716518.3:c.209T>C	XP_006716581.1:p.Met70Thr
XM_011516903.1:c.209T>C	XP_011515205.1:p.Met70Thr
XM_011516903.3:c.209T>C	XP_011515205.1:p.Met70Thr
XM_011516904.1:c.209T>C	XP_011515206.1:p.Met70Thr
XM_017013167.2:c.209T>C	XP_016868656.1:p.Met70Thr
XM_024447087.1:c.209T>C	XP_024302855.1:p.Met70Thr
XR_001745489.1:n.363T>C
XR_001745490.2:n.363T>C
XR_928507.1:n.112+725A>G
XR_928507.2:n.233+725A>G