Canonical Allele Identifier: CA352945565

Gene: ZMYND10

Linked Data

• ClinVar Variation Id: 836726
• ClinVar RCV Id: RCV001037918
• dbSNP Id: rs1703505766
• gnomAD v4: 3-50345166-G-T
• MyVariant Identifiers: chr3:g.50382597G>T (hg19) ; chr3:g.50345166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50345166G>T , CM000665.2:g.50345166G>T	GRCh38
NC_000003.11:g.50382597G>T , CM000665.1:g.50382597G>T	GRCh37
NC_000003.10:g.50357601G>T	NCBI36
NG_023270.1:g.771C>A
NG_042828.1:g.5581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231749.8:c.159C>A MANE Select	ENSP00000231749.3:p.Ser53Arg
ENST00000231749.7:c.159C>A	ENSP00000231749.3:p.Ser53Arg
ENST00000360165.7:c.159C>A	ENSP00000353289.3:p.Ser53Arg
ENST00000431869.1:c.*49C>A	ENSP00000391545.1:n.*49C>A
ENST00000442887.1:c.30C>A	ENSP00000393687.1:p.Ser10Arg
ENST00000443080.5:c.*49C>A	ENSP00000415661.1:n.*49C>A
ENST00000468182.1:n.261C>A
NM_001308379.1:c.159C>A	NP_001295308.1:p.Ser53Arg
NM_015896.2:c.159C>A	NP_056980.2:p.Ser53Arg
NM_015896.3:c.159C>A	NP_056980.2:p.Ser53Arg
XM_005265216.2:c.-37+322C>A	XP_005265273.1:n.-37+322C>A
XM_005265216.3:c.-37+322C>A	XP_005265273.1:n.-37+322C>A
NM_015896.4:c.159C>A MANE Select	NP_056980.2:p.Ser53Arg
NM_001308379.2:c.159C>A	NP_001295308.1:p.Ser53Arg