Canonical Allele Identifier: CA1117442732

Gene: DPYS

Linked Data

• dbSNP Id: rs1221294987
• gnomAD v3: 8-104466932-C-G
• gnomAD v4: 8-104466932-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466932C>G , CM000670.2:g.104466932C>G	GRCh38
NC_000008.10:g.105479160C>G , CM000670.1:g.105479160C>G	GRCh37
NC_000008.9:g.105548336C>G	NCBI36
NG_008840.1:g.5118G>C
NG_008840.2:g.5118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.-12G>C MANE Select	ENSP00000276651.2:n.-12G>C
ENST00000351513.6:c.-12G>C	ENSP00000276651.2:n.-12G>C
ENST00000521573.2:c.-12G>C	ENSP00000430246.2:n.-12G>C
NM_001385.2:c.-12G>C	NP_001376.1:n.-12G>C
XM_005250818.2:c.-12G>C	XP_005250875.1:n.-12G>C
XM_006716518.2:c.-12G>C	XP_006716581.1:n.-12G>C
XM_011516903.1:c.-12G>C	XP_011515205.1:n.-12G>C
XM_011516904.1:c.-12G>C	XP_011515206.1:n.-12G>C
XR_928507.1:n.112+945C>G
XM_005250818.3:c.-12G>C	XP_005250875.1:n.-12G>C
XM_006716518.3:c.-12G>C	XP_006716581.1:n.-12G>C
XM_011516903.3:c.-12G>C	XP_011515205.1:n.-12G>C
XM_017013167.2:c.-12G>C	XP_016868656.1:n.-12G>C
XM_024447087.1:c.-12G>C	XP_024302855.1:n.-12G>C
XR_001745489.1:n.143G>C
XR_001745490.2:n.143G>C
XR_928507.2:n.233+945C>G
NM_001385.3:c.-12G>C MANE Select	NP_001376.1:n.-12G>C