Canonical Allele Identifier: CA3479815

Gene: HDAC3

Linked Data

• dbSNP Id: rs776018192
• ExAC: 5:141005624 G / A
• gnomAD v2: 5-141005624-G-A
• gnomAD v3: 5-141626057-G-A
• gnomAD v4: 5-141626057-G-A
• MyVariant Identifiers: chr5:g.141005624G>A (hg19) ; chr5:g.141626057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141626057G>A , CM000667.2:g.141626057G>A	GRCh38
NC_000005.9:g.141005624G>A , CM000667.1:g.141005624G>A	GRCh37
NC_000005.8:g.140985808G>A	NCBI36
NG_029678.1:g.15800C>T
NG_029678.2:g.15800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305264.8:c.935C>T MANE Select	ENSP00000302967.3:p.Ser312Leu
ENST00000305264.7:c.935C>T	ENSP00000302967.3:p.Ser312Leu
ENST00000459727.5:n.233+137C>T
ENST00000467533.5:n.599+137C>T
ENST00000469207.5:n.14C>T
ENST00000469550.6:n.1008C>T
ENST00000475549.1:n.266C>T
ENST00000486618.1:n.429C>T
ENST00000491581.5:n.149C>T
ENST00000492407.1:n.767+137C>T
NM_003883.3:c.935C>T	NP_003874.2:p.Ser312Leu
XM_011537697.1:c.374C>T	XP_011535999.1:p.Ser125Leu
XR_944336.1:n.1020C>T
NM_001355039.1:c.935C>T	NP_001341968.1:p.Ser312Leu
NM_001355040.1:c.476C>T	NP_001341969.1:p.Ser159Leu
NM_001355041.1:c.374C>T	NP_001341970.1:p.Ser125Leu
NR_149164.1:n.1001C>T
NR_149165.1:n.883C>T
NR_149166.1:n.843+137C>T
NR_149167.1:n.1011+137C>T
NR_149168.1:n.1026C>T
NR_149169.1:n.1026C>T
NM_003883.4:c.935C>T MANE Select	NP_003874.2:p.Ser312Leu
NM_001355039.2:c.935C>T	NP_001341968.1:p.Ser312Leu
NR_149167.2:n.1004+137C>T
NM_001355040.2:c.476C>T	NP_001341969.1:p.Ser159Leu
NM_001355041.2:c.374C>T	NP_001341970.1:p.Ser125Leu
NR_149164.2:n.994C>T
NR_149165.2:n.876C>T
NR_149166.2:n.836+137C>T
NR_149168.2:n.1019C>T
NR_149169.2:n.1019C>T