Canonical Allele Identifier: CA1117442755

Gene: DPYS

Linked Data

• dbSNP Id: rs1200125523
• gnomAD v3: 8-104466966-G-C
• gnomAD v4: 8-104466966-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466966G>C , CM000670.2:g.104466966G>C	GRCh38
NC_000008.10:g.105479194G>C , CM000670.1:g.105479194G>C	GRCh37
NC_000008.9:g.105548370G>C	NCBI36
NG_008840.1:g.5084C>G
NG_008840.2:g.5084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.-46C>G MANE Select	ENSP00000276651.2:n.-46C>G
ENST00000351513.6:c.-46C>G	ENSP00000276651.2:n.-46C>G
ENST00000521573.2:c.-46C>G	ENSP00000430246.2:n.-46C>G
NM_001385.2:c.-46C>G	NP_001376.1:n.-46C>G
XM_005250818.2:c.-46C>G	XP_005250875.1:n.-46C>G
XM_006716518.2:c.-46C>G	XP_006716581.1:n.-46C>G
XM_011516903.1:c.-46C>G	XP_011515205.1:n.-46C>G
XM_011516904.1:c.-46C>G	XP_011515206.1:n.-46C>G
XR_928507.1:n.112+979G>C
XM_005250818.3:c.-46C>G	XP_005250875.1:n.-46C>G
XM_006716518.3:c.-46C>G	XP_006716581.1:n.-46C>G
XM_011516903.3:c.-46C>G	XP_011515205.1:n.-46C>G
XM_017013167.2:c.-46C>G	XP_016868656.1:n.-46C>G
XM_024447087.1:c.-46C>G	XP_024302855.1:n.-46C>G
XR_001745489.1:n.109C>G
XR_001745490.2:n.109C>G
XR_928507.2:n.233+979G>C
NM_001385.3:c.-46C>G MANE Select	NP_001376.1:n.-46C>G