Canonical Allele Identifier: CA3479810

Gene: HDAC3

Linked Data

• ClinVar Variation Id: 782456
• ClinVar RCV Id: RCV000963849
• dbSNP Id: rs73794947
• ExAC: 5:141005593 C / T
• gnomAD v2: 5-141005593-C-T
• gnomAD v3: 5-141626026-C-T
• gnomAD v4: 5-141626026-C-T
• MyVariant Identifiers: chr5:g.141005593C>T (hg19) ; chr5:g.141626026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141626026C>T , CM000667.2:g.141626026C>T	GRCh38
NC_000005.9:g.141005593C>T , CM000667.1:g.141005593C>T	GRCh37
NC_000005.8:g.140985777C>T	NCBI36
NG_029678.1:g.15831G>A
NG_029678.2:g.15831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305264.8:c.966G>A MANE Select	ENSP00000302967.3:p.Glu322=
ENST00000305264.7:c.966G>A	ENSP00000302967.3:p.Glu322=
ENST00000459727.5:n.233+168G>A
ENST00000467533.5:n.599+168G>A
ENST00000469207.5:n.45G>A
ENST00000469550.6:n.1039G>A
ENST00000475549.1:n.297G>A
ENST00000486618.1:n.460G>A
ENST00000491581.5:n.180G>A
ENST00000492407.1:n.767+168G>A
NM_003883.3:c.966G>A	NP_003874.2:p.Glu322=
XM_011537697.1:c.405G>A	XP_011535999.1:p.Glu135=
XR_944336.1:n.1051G>A
NM_001355039.1:c.966G>A	NP_001341968.1:p.Glu322=
NM_001355040.1:c.507G>A	NP_001341969.1:p.Glu169=
NM_001355041.1:c.405G>A	NP_001341970.1:p.Glu135=
NR_149164.1:n.1032G>A
NR_149165.1:n.914G>A
NR_149166.1:n.843+168G>A
NR_149167.1:n.1011+168G>A
NR_149168.1:n.1057G>A
NR_149169.1:n.1057G>A
NM_003883.4:c.966G>A MANE Select	NP_003874.2:p.Glu322=
NM_001355039.2:c.966G>A	NP_001341968.1:p.Glu322=
NR_149167.2:n.1004+168G>A
NM_001355040.2:c.507G>A	NP_001341969.1:p.Glu169=
NM_001355041.2:c.405G>A	NP_001341970.1:p.Glu135=
NR_149164.2:n.1025G>A
NR_149165.2:n.907G>A
NR_149166.2:n.836+168G>A
NR_149168.2:n.1050G>A
NR_149169.2:n.1050G>A