Canonical Allele Identifier: CA2417130

Gene: ZMYND10

Linked Data

• ClinVar Variation Id: 2142179
• ClinVar RCV Id: RCV003076250
• dbSNP Id: rs762889922
• ExAC: 3:50380358 G / A
• gnomAD v2: 3-50380358-G-A
• gnomAD v3: 3-50342927-G-A
• gnomAD v4: 3-50342927-G-A
• MyVariant Identifiers: chr3:g.50380358G>A (hg19) ; chr3:g.50342927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50342927G>A , CM000665.2:g.50342927G>A	GRCh38
NC_000003.11:g.50380358G>A , CM000665.1:g.50380358G>A	GRCh37
NC_000003.10:g.50355362G>A	NCBI36
NG_023270.1:g.3010C>T
NG_042828.1:g.7820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231749.8:c.691C>T MANE Select	ENSP00000231749.3:p.Arg231Trp
ENST00000231749.7:c.691C>T	ENSP00000231749.3:p.Arg231Trp
ENST00000360165.7:c.599+191C>T	ENSP00000353289.3:n.599+191C>T
ENST00000442887.1:c.562C>T	ENSP00000393687.1:p.Arg188Trp
ENST00000443080.5:c.*443C>T	ENSP00000415661.1:n.*443C>T
ENST00000475688.1:n.242C>T
NM_001308379.1:c.599+191C>T	NP_001295308.1:n.599+191C>T
NM_015896.2:c.691C>T	NP_056980.2:p.Arg231Trp
NM_015896.3:c.691C>T	NP_056980.2:p.Arg231Trp
XM_005265216.2:c.454C>T	XP_005265273.1:p.Arg152Trp
XM_005265216.3:c.454C>T	XP_005265273.1:p.Arg152Trp
NM_015896.4:c.691C>T MANE Select	NP_056980.2:p.Arg231Trp
NM_001308379.2:c.599+191C>T	NP_001295308.1:n.599+191C>T