Canonical Allele Identifier: CA114023
Gene: DPYS HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.104392924C>T
GRCh37 chr8:g.105405152C>T
Revel Score:
ENST00000351513 (MANE Select) 0.872
gnomAD v2:
8:105405152 C / T
gnomAD v3:
8:104392924 C / T
gnomAD v4:
chr8-104392924-C-T
Joint Max Group AF 0.00005136 (SAS)
Exomes Max Group AF 0.00004578 (SAS)
ClinVar RCV:
RCV000000208
ClinVar Variation:
185
dbSNP:
267606773
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104392924C>T , CM000670.2:g.104392924C>T GRCh38
NC_000008.10:g.105405152C>T , CM000670.1:g.105405152C>T GRCh37
NC_000008.9:g.105474328C>T NCBI36
NG_008840.1:g.79126G>A
NG_008840.2:g.79126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.1303G>A MANE Select ENSP00000276651.2:p.Gly435Arg
ENST00000351513.6:c.1303G>A ENSP00000276651.2:p.Gly435Arg
ENST00000520483.5:n.207G>A
ENST00000521372.1:n.135G>A
ENST00000521601.1:n.198-11610G>A
NM_001385.2:c.1303G>A NP_001376.1:p.Gly435Arg
XM_005250818.2:c.1411G>A XP_005250875.1:p.Gly471Arg
XM_006716518.2:c.1252G>A XP_006716581.1:p.Gly418Arg
XM_011516903.1:c.1411G>A XP_011515205.1:p.Gly471Arg
XM_005250818.3:c.1411G>A XP_005250875.1:p.Gly471Arg
XM_006716518.3:c.1252G>A XP_006716581.1:p.Gly418Arg
XM_011516903.3:c.1411G>A XP_011515205.1:p.Gly471Arg
XM_024447087.1:c.1411G>A XP_024302855.1:p.Gly471Arg
XR_001745489.1:n.1902G>A
XR_001745490.2:n.1794G>A
NM_001385.3:c.1303G>A MANE Select NP_001376.1:p.Gly435Arg
Search 100 bp 5'
Search 100 bp 3'