Canonical Allele Identifier: CA2417271
Gene: ZMYND10 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.50343823C>T
GRCh37 chr3:g.50381254C>T
Revel Score:
ENST00000231749 (MANE Select) 0.037
ENST00000360165 0.037
ENST00000442887 0.037
gnomAD v2:
3:50381254 C / T
gnomAD v3:
3:50343823 C / T
gnomAD v4:
chr3-50343823-C-T
Joint Max Group AF 0.0028669 (MID)
Genomes Max Group AF 0.0017386 (NFE)
Exomes Max Group AF 0.0025817 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50343823C>T , CM000665.2:g.50343823C>T GRCh38
NC_000003.11:g.50381254C>T , CM000665.1:g.50381254C>T GRCh37
NC_000003.10:g.50356258C>T NCBI36
NG_023270.1:g.2114G>A
NG_042828.1:g.6924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231749.8:c.229G>A MANE Select ENSP00000231749.3:p.Ala77Thr
ENST00000231749.7:c.229G>A ENSP00000231749.3:p.Ala77Thr
ENST00000360165.7:c.229G>A ENSP00000353289.3:p.Ala77Thr
ENST00000431869.1:c.*119G>A ENSP00000391545.1:n.*119G>A
ENST00000442887.1:c.100G>A ENSP00000393687.1:p.Ala34Thr
ENST00000443080.5:c.*119G>A ENSP00000415661.1:n.*119G>A
ENST00000478269.5:n.214G>A
NM_001308379.1:c.229G>A NP_001295308.1:p.Ala77Thr
NM_015896.2:c.229G>A NP_056980.2:p.Ala77Thr
NM_015896.3:c.229G>A NP_056980.2:p.Ala77Thr
XM_005265216.2:c.-9G>A XP_005265273.1:n.-9G>A
XM_005265216.3:c.-9G>A XP_005265273.1:n.-9G>A
NM_015896.4:c.229G>A MANE Select NP_056980.2:p.Ala77Thr
NM_001308379.2:c.229G>A NP_001295308.1:p.Ala77Thr
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