Canonical Allele Identifier: CA4838287
Gene: DPYS HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.104392804G>A
GRCh37 chr8:g.105405032G>A
Revel Score:
ENST00000533874 0.048
gnomAD v2:
8:105405032 G / A
gnomAD v3:
8:104392804 G / A
gnomAD v4:
chr8-104392804-G-A
Joint Max Group AF 0.00022392 (MID)
Genomes Max Group AF 0.00011229 (NFE)
Exomes Max Group AF 0.00023619 (MID)
ClinVar RCV:
RCV000514407
RCV001783010
ClinVar Variation:
446083
dbSNP:
61758444
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104392804G>A , CM000670.2:g.104392804G>A GRCh38
NC_000008.10:g.105405032G>A , CM000670.1:g.105405032G>A GRCh37
NC_000008.9:g.105474208G>A NCBI36
NG_008840.1:g.79246C>T
NG_008840.2:g.79246C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.1423C>T MANE Select ENSP00000276651.2:p.Arg475Ter
ENST00000351513.6:c.1423C>T ENSP00000276651.2:p.Arg475Ter
ENST00000520483.5:n.327C>T
ENST00000521372.1:n.255C>T
ENST00000521601.1:n.198-11490C>T
ENST00000533874.1:c.53C>T
NM_001385.2:c.1423C>T NP_001376.1:p.Arg475Ter
XM_005250818.2:c.1531C>T XP_005250875.1:p.Arg511Ter
XM_006716518.2:c.1372C>T XP_006716581.1:p.Arg458Ter
XM_011516903.1:c.1531C>T XP_011515205.1:p.Arg511Ter
XM_005250818.3:c.1531C>T XP_005250875.1:p.Arg511Ter
XM_006716518.3:c.1372C>T XP_006716581.1:p.Arg458Ter
XM_011516903.3:c.1531C>T XP_011515205.1:p.Arg511Ter
XM_024447087.1:c.1531C>T XP_024302855.1:p.Arg511Ter
XR_001745489.1:n.2022C>T
XR_001745490.2:n.1914C>T
NM_001385.3:c.1423C>T MANE Select NP_001376.1:p.Arg475Ter
Search 100 bp 5'
Search 100 bp 3'