Canonical Allele Identifier: CA114024
Gene: DPYS HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.104427994A>G
GRCh37 chr8:g.105440222A>G
Revel Score:
ENST00000351513 (MANE Select) 0.907
gnomAD v2:
8:105440222 A / G
gnomAD v3:
8:104427994 A / G
gnomAD v4:
chr8-104427994-A-G
Joint Max Group AF 0.0005426 (MID)
Genomes Max Group AF 0.00005278 (AMR)
Exomes Max Group AF 0.00045366 (MID)
ClinVar RCV:
RCV000000209
RCV001778643
ClinVar Variation:
186
dbSNP:
121964924
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104427994A>G , CM000670.2:g.104427994A>G GRCh38
NC_000008.10:g.105440222A>G , CM000670.1:g.105440222A>G GRCh37
NC_000008.9:g.105509398A>G NCBI36
NG_008840.1:g.44056T>C
NG_008840.2:g.44056T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.1078T>C MANE Select ENSP00000276651.2:p.Trp360Arg
ENST00000351513.6:c.1078T>C ENSP00000276651.2:p.Trp360Arg
NM_001385.2:c.1078T>C NP_001376.1:p.Trp360Arg
XM_005250818.2:c.1078T>C XP_005250875.1:p.Trp360Arg
XM_006716518.2:c.919T>C XP_006716581.1:p.Trp307Arg
XM_011516903.1:c.1078T>C XP_011515205.1:p.Trp360Arg
XM_011516904.1:c.1078T>C XP_011515206.1:p.Trp360Arg
XM_005250818.3:c.1078T>C XP_005250875.1:p.Trp360Arg
XM_006716518.3:c.919T>C XP_006716581.1:p.Trp307Arg
XM_011516903.3:c.1078T>C XP_011515205.1:p.Trp360Arg
XM_017013167.2:c.1078T>C XP_016868656.1:p.Trp360Arg
XM_024447087.1:c.1078T>C XP_024302855.1:p.Trp360Arg
XR_001745489.1:n.1232T>C
XR_001745490.2:n.1232T>C
NM_001385.3:c.1078T>C MANE Select NP_001376.1:p.Trp360Arg
Search 100 bp 5'
Search 100 bp 3'