Canonical Allele Identifier: CA2417323
Gene: ZMYND10 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.50345495A>G
GRCh37 chr3:g.50382926A>G
Revel Score:
ENST00000231749 (MANE Select) 0.229
ENST00000360165 0.229
gnomAD v2:
3:50382926 A / G
gnomAD v3:
3:50345495 A / G
gnomAD v4:
chr3-50345495-A-G
Joint Max Group AF 0.00025185 (AMR)
Genomes Max Group AF 0.00060341 (AMR)
Exomes Max Group AF 0.00007421 (AMR)
ClinVar RCV:
RCV000474323
ClinVar Variation:
410632
dbSNP:
587621539
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50345495A>G , CM000665.2:g.50345495A>G GRCh38
NC_000003.11:g.50382926A>G , CM000665.1:g.50382926A>G GRCh37
NC_000003.10:g.50357930A>G NCBI36
NG_023270.1:g.442T>C
NG_042828.1:g.5252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000231749.8:c.85T>C MANE Select ENSP00000231749.3:p.Ser29Pro
ENST00000231749.7:c.85T>C ENSP00000231749.3:p.Ser29Pro
ENST00000360165.7:c.85T>C ENSP00000353289.3:p.Ser29Pro
ENST00000431869.1:c.85T>C ENSP00000391545.1:p.Ser29Pro
ENST00000442887.1:c.-38+40T>C ENSP00000393687.1:n.-38+40T>C
ENST00000443080.5:c.85T>C ENSP00000415661.1:p.Ser29Pro
ENST00000468182.1:n.187T>C
NM_001308379.1:c.85T>C NP_001295308.1:p.Ser29Pro
NM_015896.2:c.85T>C NP_056980.2:p.Ser29Pro
NM_015896.3:c.85T>C NP_056980.2:p.Ser29Pro
XM_005265216.2:c.-44T>C XP_005265273.1:n.-44T>C
XM_005265216.3:c.-44T>C XP_005265273.1:n.-44T>C
NM_015896.4:c.85T>C MANE Select NP_056980.2:p.Ser29Pro
NM_001308379.2:c.85T>C NP_001295308.1:p.Ser29Pro
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