Canonical Allele Identifier: CA214445
Gene: ZMYND10 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.50342473A>G
GRCh37 chr3:g.50379904A>G
Revel Score:
ENST00000231749 (MANE Select) 0.785
ENST00000360165 0.785
ENST00000442887 0.785
gnomAD v2:
3:50379904 A / G
gnomAD v3:
3:50342473 A / G
gnomAD v4:
chr3-50342473-A-G
Joint Max Group AF 0.00006642 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006872 (NFE)
ClinVar RCV:
RCV000056269
RCV000468778
ClinVar Variation:
66026
dbSNP:
200913791
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50342473A>G , CM000665.2:g.50342473A>G GRCh38
NC_000003.11:g.50379904A>G , CM000665.1:g.50379904A>G GRCh37
NC_000003.10:g.50354908A>G NCBI36
NG_023270.1:g.3464T>C
NG_042828.1:g.8274T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000231749.8:c.797T>C MANE Select ENSP00000231749.3:p.Leu266Pro
ENST00000231749.7:c.797T>C ENSP00000231749.3:p.Leu266Pro
ENST00000360165.7:c.782T>C ENSP00000353289.3:p.Leu261Pro
ENST00000442887.1:c.668T>C ENSP00000393687.1:p.Leu223Pro
ENST00000475688.1:n.696T>C
NM_001308379.1:c.782T>C NP_001295308.1:p.Leu261Pro
NM_015896.2:c.797T>C NP_056980.2:p.Leu266Pro
NM_015896.3:c.797T>C NP_056980.2:p.Leu266Pro
XM_005265216.2:c.560T>C XP_005265273.1:p.Leu187Pro
XM_005265216.3:c.560T>C XP_005265273.1:p.Leu187Pro
NM_015896.4:c.797T>C MANE Select NP_056980.2:p.Leu266Pro
NM_001308379.2:c.782T>C NP_001295308.1:p.Leu261Pro
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