Canonical Allele Identifier: CA2417168

Gene: ZMYND10

Linked Data

• ClinVar Variation Id: 241070
• ClinVar RCV Id: RCV000232805
• dbSNP Id: rs749419715
• ExAC: 3:50380573 C / T
• gnomAD v2: 3-50380573-C-T
• gnomAD v3: 3-50343142-C-T
• gnomAD v4: 3-50343142-C-T
• MyVariant Identifiers: chr3:g.50380573C>T (hg19) ; chr3:g.50343142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50343142C>T , CM000665.2:g.50343142C>T	GRCh38
NC_000003.11:g.50380573C>T , CM000665.1:g.50380573C>T	GRCh37
NC_000003.10:g.50355577C>T	NCBI36
NG_023270.1:g.2795G>A
NG_042828.1:g.7605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231749.8:c.575G>A MANE Select	ENSP00000231749.3:p.Arg192His
ENST00000231749.7:c.575G>A	ENSP00000231749.3:p.Arg192His
ENST00000360165.7:c.575G>A	ENSP00000353289.3:p.Arg192His
ENST00000442887.1:c.446G>A	ENSP00000393687.1:p.Arg149His
ENST00000443080.5:c.*327G>A	ENSP00000415661.1:n.*327G>A
ENST00000475688.1:n.27G>A
NM_001308379.1:c.575G>A	NP_001295308.1:p.Arg192His
NM_015896.2:c.575G>A	NP_056980.2:p.Arg192His
NM_015896.3:c.575G>A	NP_056980.2:p.Arg192His
XM_005265216.2:c.338G>A	XP_005265273.1:p.Arg113His
XM_005265216.3:c.338G>A	XP_005265273.1:p.Arg113His
NM_015896.4:c.575G>A MANE Select	NP_056980.2:p.Arg192His
NM_001308379.2:c.575G>A	NP_001295308.1:p.Arg192His