Canonical Allele Identifier: CA4838350
Gene: DPYS HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.104424345G>T
GRCh37 chr8:g.105436573G>T
Revel Score:
ENST00000351513 (MANE Select) 0.915
gnomAD v2:
8:105436573 G / T
gnomAD v3:
8:104424345 G / T
gnomAD v4:
chr8-104424345-G-T
Joint Max Group AF 0.00042899 (MID)
Genomes Max Group AF 0.0001708 (NFE)
Exomes Max Group AF 0.00045303 (MID)
ClinVar RCV:
RCV000413409
RCV000779549
ClinVar Variation:
372797
dbSNP:
201258823
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104424345G>T , CM000670.2:g.104424345G>T GRCh38
NC_000008.10:g.105436573G>T , CM000670.1:g.105436573G>T GRCh37
NC_000008.9:g.105505749G>T NCBI36
NG_008840.1:g.47705C>A
NG_008840.2:g.47705C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.1137C>A MANE Select ENSP00000276651.2:p.Ser379Arg
ENST00000351513.6:c.1137C>A ENSP00000276651.2:p.Ser379Arg
NM_001385.2:c.1137C>A NP_001376.1:p.Ser379Arg
XM_005250818.2:c.1137C>A XP_005250875.1:p.Ser379Arg
XM_006716518.2:c.978C>A XP_006716581.1:p.Ser326Arg
XM_011516903.1:c.1137C>A XP_011515205.1:p.Ser379Arg
XM_011516904.1:c.1137C>A XP_011515206.1:p.Ser379Arg
XM_005250818.3:c.1137C>A XP_005250875.1:p.Ser379Arg
XM_006716518.3:c.978C>A XP_006716581.1:p.Ser326Arg
XM_011516903.3:c.1137C>A XP_011515205.1:p.Ser379Arg
XM_017013167.2:c.1137C>A XP_016868656.1:p.Ser379Arg
XM_024447087.1:c.1137C>A XP_024302855.1:p.Ser379Arg
XR_001745489.1:n.1291C>A
XR_001745490.2:n.1291C>A
NM_001385.3:c.1137C>A MANE Select NP_001376.1:p.Ser379Arg
Search 100 bp 5'
Search 100 bp 3'