Canonical Allele Identifier: CA352942190

Gene: ZMYND10

Linked Data

• ClinVar Variation Id: 646133
• ClinVar RCV Id: RCV000800360
• dbSNP Id: rs1182616344
• gnomAD v2: 3-50380597-G-A
• gnomAD v3: 3-50343166-G-A
• gnomAD v4: 3-50343166-G-A
• MyVariant Identifiers: chr3:g.50380597G>A (hg19) ; chr3:g.50343166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50343166G>A , CM000665.2:g.50343166G>A	GRCh38
NC_000003.11:g.50380597G>A , CM000665.1:g.50380597G>A	GRCh37
NC_000003.10:g.50355601G>A	NCBI36
NG_023270.1:g.2771C>T
NG_042828.1:g.7581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231749.8:c.551C>T MANE Select	ENSP00000231749.3:p.Ala184Val
ENST00000231749.7:c.551C>T	ENSP00000231749.3:p.Ala184Val
ENST00000360165.7:c.551C>T	ENSP00000353289.3:p.Ala184Val
ENST00000442887.1:c.422C>T	ENSP00000393687.1:p.Ala141Val
ENST00000443080.5:c.*303C>T	ENSP00000415661.1:n.*303C>T
ENST00000475688.1:n.3C>T
NM_001308379.1:c.551C>T	NP_001295308.1:p.Ala184Val
NM_015896.2:c.551C>T	NP_056980.2:p.Ala184Val
NM_015896.3:c.551C>T	NP_056980.2:p.Ala184Val
XM_005265216.2:c.314C>T	XP_005265273.1:p.Ala105Val
XM_005265216.3:c.314C>T	XP_005265273.1:p.Ala105Val
NM_015896.4:c.551C>T MANE Select	NP_056980.2:p.Ala184Val
NM_001308379.2:c.551C>T	NP_001295308.1:p.Ala184Val