Canonical Allele Identifier: CA9500480

Gene: ZNF229

Linked Data

• dbSNP Id: rs1434579
• ExAC: 19:44932972 C / A
• gnomAD v2: 19-44932972-C-A
• gnomAD v4: 19-44428797-C-A
• MyVariant Identifiers: chr19:g.44932972C>A (hg19) ; chr19:g.44428797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44428797C>A , CM000681.2:g.44428797C>A	GRCh38
NC_000019.9:g.44932972C>A , CM000681.1:g.44932972C>A	GRCh37
NC_000019.8:g.49624812C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000614049.5:c.1984G>T MANE Select	ENSP00000479884.1:p.Gly662Ter
ENST00000591289.5:n.523-11251G>T
ENST00000613197.4:c.1966G>T	ENSP00000479807.1:p.Gly656Ter
ENST00000614049.4:c.1984G>T	ENSP00000479884.1:p.Gly662Ter
ENST00000620012.4:c.*2187G>T	ENSP00000483138.1:n.*2187G>T
NM_001278510.2:c.1966G>T	NP_001265439.2:p.Gly656Ter
NM_014518.3:c.1984G>T	NP_055333.3:p.Gly662Ter
NR_103551.2:n.2873G>T
XM_006723372.2:c.1900G>T	XP_006723435.1:p.Gly634Ter
XM_011527292.1:c.1966G>T	XP_011525594.1:p.Gly656Ter
XM_006723372.4:c.1900G>T	XP_006723435.1:p.Gly634Ter
XM_011527292.2:c.1966G>T	XP_011525594.1:p.Gly656Ter
XM_017027280.2:c.946G>T	XP_016882769.1:p.Gly316Ter
NM_014518.4:c.1984G>T MANE Select	NP_055333.3:p.Gly662Ter
NR_103551.3:n.2868G>T
NM_001278510.3:c.1966G>T	NP_001265439.2:p.Gly656Ter