Canonical Allele Identifier: CA3479809

Gene: HDAC3

Linked Data

• dbSNP Id: rs778388208
• ExAC: 5:141005587 G / A
• gnomAD v2: 5-141005587-G-A
• gnomAD v3: 5-141626020-G-A
• gnomAD v4: 5-141626020-G-A
• MyVariant Identifiers: chr5:g.141005587G>A (hg19) ; chr5:g.141626020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141626020G>A , CM000667.2:g.141626020G>A	GRCh38
NC_000005.9:g.141005587G>A , CM000667.1:g.141005587G>A	GRCh37
NC_000005.8:g.140985771G>A	NCBI36
NG_029678.1:g.15837C>T
NG_029678.2:g.15837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305264.8:c.972C>T MANE Select	ENSP00000302967.3:p.Pro324=
ENST00000305264.7:c.972C>T	ENSP00000302967.3:p.Pro324=
ENST00000459727.5:n.233+174C>T
ENST00000467533.5:n.599+174C>T
ENST00000469207.5:n.51C>T
ENST00000469550.6:n.1045C>T
ENST00000486618.1:n.466C>T
ENST00000491581.5:n.186C>T
ENST00000492407.1:n.767+174C>T
NM_003883.3:c.972C>T	NP_003874.2:p.Pro324=
XM_011537697.1:c.411C>T	XP_011535999.1:p.Pro137=
XR_944336.1:n.1057C>T
NM_001355039.1:c.972C>T	NP_001341968.1:p.Pro324=
NM_001355040.1:c.513C>T	NP_001341969.1:p.Pro171=
NM_001355041.1:c.411C>T	NP_001341970.1:p.Pro137=
NR_149164.1:n.1038C>T
NR_149165.1:n.920C>T
NR_149166.1:n.843+174C>T
NR_149167.1:n.1011+174C>T
NR_149168.1:n.1063C>T
NR_149169.1:n.1063C>T
NM_003883.4:c.972C>T MANE Select	NP_003874.2:p.Pro324=
NM_001355039.2:c.972C>T	NP_001341968.1:p.Pro324=
NR_149167.2:n.1004+174C>T
NM_001355040.2:c.513C>T	NP_001341969.1:p.Pro171=
NM_001355041.2:c.411C>T	NP_001341970.1:p.Pro137=
NR_149164.2:n.1031C>T
NR_149165.2:n.913C>T
NR_149166.2:n.836+174C>T
NR_149168.2:n.1056C>T
NR_149169.2:n.1056C>T