Canonical Allele Identifier: CA2417141

Gene: ZMYND10

Linked Data

• ClinVar Variation Id: 660905
• ClinVar RCV Id: RCV000818205
• dbSNP Id: rs199711270
• ExAC: 3:50380412 G / T
• gnomAD v3: 3-50342981-G-T
• gnomAD v4: 3-50342981-G-T
• MyVariant Identifiers: chr3:g.50380412G>T (hg19) ; chr3:g.50342981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50342981G>T , CM000665.2:g.50342981G>T	GRCh38
NC_000003.11:g.50380412G>T , CM000665.1:g.50380412G>T	GRCh37
NC_000003.10:g.50355416G>T	NCBI36
NG_023270.1:g.2956C>A
NG_042828.1:g.7766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231749.8:c.637C>A MANE Select	ENSP00000231749.3:p.His213Asn
ENST00000231749.7:c.637C>A	ENSP00000231749.3:p.His213Asn
ENST00000360165.7:c.599+137C>A	ENSP00000353289.3:n.599+137C>A
ENST00000442887.1:c.508C>A	ENSP00000393687.1:p.His170Asn
ENST00000443080.5:c.*389C>A	ENSP00000415661.1:n.*389C>A
ENST00000475688.1:n.188C>A
NM_001308379.1:c.599+137C>A	NP_001295308.1:n.599+137C>A
NM_015896.2:c.637C>A	NP_056980.2:p.His213Asn
NM_015896.3:c.637C>A	NP_056980.2:p.His213Asn
XM_005265216.2:c.400C>A	XP_005265273.1:p.His134Asn
XM_005265216.3:c.400C>A	XP_005265273.1:p.His134Asn
NM_015896.4:c.637C>A MANE Select	NP_056980.2:p.His213Asn
NM_001308379.2:c.599+137C>A	NP_001295308.1:n.599+137C>A