Canonical Allele Identifier: CA371937516

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104447425A>G , CM000670.2:g.104447425A>G	GRCh38
NC_000008.10:g.105459653A>G , CM000670.1:g.105459653A>G	GRCh37
NC_000008.9:g.105528829A>G	NCBI36
NG_008840.1:g.24625T>C
NG_008840.2:g.24625T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.502T>C MANE Select	NP_001376.1:p.Tyr168His
ENST00000351513.7:c.502T>C MANE Select	ENSP00000276651.2:p.Tyr168His
NM_001385.2:c.502T>C	NP_001376.1:p.Tyr168His
ENST00000351513.6:c.502T>C	ENSP00000276651.2:p.Tyr168His
ENST00000521573.2:c.343T>C	ENSP00000430246.2:p.Tyr115His
XM_005250818.2:c.502T>C	XP_005250875.1:p.Tyr168His
XM_005250818.3:c.502T>C	XP_005250875.1:p.Tyr168His
XM_006716518.2:c.343T>C	XP_006716581.1:p.Tyr115His
XM_006716518.3:c.343T>C	XP_006716581.1:p.Tyr115His
XM_011516903.1:c.502T>C	XP_011515205.1:p.Tyr168His
XM_011516903.3:c.502T>C	XP_011515205.1:p.Tyr168His
XM_011516904.1:c.502T>C	XP_011515206.1:p.Tyr168His
XM_017013167.2:c.502T>C	XP_016868656.1:p.Tyr168His
XM_024447087.1:c.502T>C	XP_024302855.1:p.Tyr168His
XR_001745489.1:n.656T>C
XR_001745490.2:n.656T>C