Canonical Allele Identifier: CA2417136

Gene: ZMYND10

Linked Data

• dbSNP Id: rs760207561
• ExAC: 3:50380395 G / T
• gnomAD v2: 3-50380395-G-T
• gnomAD v4: 3-50342964-G-T
• MyVariant Identifiers: chr3:g.50380395G>T (hg19) ; chr3:g.50342964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50342964G>T , CM000665.2:g.50342964G>T	GRCh38
NC_000003.11:g.50380395G>T , CM000665.1:g.50380395G>T	GRCh37
NC_000003.10:g.50355399G>T	NCBI36
NG_023270.1:g.2973C>A
NG_042828.1:g.7783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231749.8:c.654C>A MANE Select	ENSP00000231749.3:p.Leu218=
ENST00000231749.7:c.654C>A	ENSP00000231749.3:p.Leu218=
ENST00000360165.7:c.599+154C>A	ENSP00000353289.3:n.599+154C>A
ENST00000442887.1:c.525C>A	ENSP00000393687.1:p.Leu175=
ENST00000443080.5:c.*406C>A	ENSP00000415661.1:n.*406C>A
ENST00000475688.1:n.205C>A
NM_001308379.1:c.599+154C>A	NP_001295308.1:n.599+154C>A
NM_015896.2:c.654C>A	NP_056980.2:p.Leu218=
NM_015896.3:c.654C>A	NP_056980.2:p.Leu218=
XM_005265216.2:c.417C>A	XP_005265273.1:p.Leu139=
XM_005265216.3:c.417C>A	XP_005265273.1:p.Leu139=
NM_015896.4:c.654C>A MANE Select	NP_056980.2:p.Leu218=
NM_001308379.2:c.599+154C>A	NP_001295308.1:n.599+154C>A