Canonical Allele Identifier: CA3479812

Gene: HDAC3

Linked Data

• dbSNP Id: rs779798769
• ExAC: 5:141005601 T / G
• gnomAD v2: 5-141005601-T-G
• gnomAD v4: 5-141626034-T-G
• MyVariant Identifiers: chr5:g.141005601T>G (hg19) ; chr5:g.141626034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141626034T>G , CM000667.2:g.141626034T>G	GRCh38
NC_000005.9:g.141005601T>G , CM000667.1:g.141005601T>G	GRCh37
NC_000005.8:g.140985785T>G	NCBI36
NG_029678.1:g.15823A>C
NG_029678.2:g.15823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305264.8:c.958A>C MANE Select	ENSP00000302967.3:p.Ser320Arg
ENST00000305264.7:c.958A>C	ENSP00000302967.3:p.Ser320Arg
ENST00000459727.5:n.233+160A>C
ENST00000467533.5:n.599+160A>C
ENST00000469207.5:n.37A>C
ENST00000469550.6:n.1031A>C
ENST00000475549.1:n.289A>C
ENST00000486618.1:n.452A>C
ENST00000491581.5:n.172A>C
ENST00000492407.1:n.767+160A>C
NM_003883.3:c.958A>C	NP_003874.2:p.Ser320Arg
XM_011537697.1:c.397A>C	XP_011535999.1:p.Ser133Arg
XR_944336.1:n.1043A>C
NM_001355039.1:c.958A>C	NP_001341968.1:p.Ser320Arg
NM_001355040.1:c.499A>C	NP_001341969.1:p.Ser167Arg
NM_001355041.1:c.397A>C	NP_001341970.1:p.Ser133Arg
NR_149164.1:n.1024A>C
NR_149165.1:n.906A>C
NR_149166.1:n.843+160A>C
NR_149167.1:n.1011+160A>C
NR_149168.1:n.1049A>C
NR_149169.1:n.1049A>C
NM_003883.4:c.958A>C MANE Select	NP_003874.2:p.Ser320Arg
NM_001355039.2:c.958A>C	NP_001341968.1:p.Ser320Arg
NR_149167.2:n.1004+160A>C
NM_001355040.2:c.499A>C	NP_001341969.1:p.Ser167Arg
NM_001355041.2:c.397A>C	NP_001341970.1:p.Ser133Arg
NR_149164.2:n.1017A>C
NR_149165.2:n.899A>C
NR_149166.2:n.836+160A>C
NR_149168.2:n.1042A>C
NR_149169.2:n.1042A>C