Canonical Allele Identifier: CA4838596

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104451327G>A , CM000670.2:g.104451327G>A	GRCh38
NC_000008.10:g.105463555G>A , CM000670.1:g.105463555G>A	GRCh37
NC_000008.9:g.105532731G>A	NCBI36
NG_008840.1:g.20723C>T
NG_008840.2:g.20723C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.342C>T MANE Select	NP_001376.1:p.Phe114=
ENST00000351513.7:c.342C>T MANE Select	ENSP00000276651.2:p.Phe114=
NM_001385.2:c.342C>T	NP_001376.1:p.Phe114=
ENST00000351513.6:c.342C>T	ENSP00000276651.2:p.Phe114=
ENST00000521573.2:c.265-3824C>T	ENSP00000430246.2:n.265-3824C>T
XM_005250818.2:c.342C>T	XP_005250875.1:p.Phe114=
XM_005250818.3:c.342C>T	XP_005250875.1:p.Phe114=
XM_006716518.2:c.265-3824C>T	XP_006716581.1:n.265-3824C>T
XM_006716518.3:c.265-3824C>T	XP_006716581.1:n.265-3824C>T
XM_011516903.1:c.342C>T	XP_011515205.1:p.Phe114=
XM_011516903.3:c.342C>T	XP_011515205.1:p.Phe114=
XM_011516904.1:c.342C>T	XP_011515206.1:p.Phe114=
XM_017013167.2:c.342C>T	XP_016868656.1:p.Phe114=
XM_024447087.1:c.342C>T	XP_024302855.1:p.Phe114=
XR_001745489.1:n.496C>T
XR_001745490.2:n.496C>T