Canonical Allele Identifier: CA386513533

Gene: ABTB3

Linked Data

• ClinVar Variation Id: 3133308
• ClinVar RCV Id: RCV004426201
• gnomAD v4: 12-107319872-G-A
• MyVariant Identifiers: chr12:g.107713649G>A (hg19) ; chr12:g.107319872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.107319872G>A , CM000674.2:g.107319872G>A	GRCh38
NC_000012.11:g.107713649G>A , CM000674.1:g.107713649G>A	GRCh37
NC_000012.10:g.106237779G>A	NCBI36
NG_052621.1:g.7705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280758.10:c.932G>A MANE Select	ENSP00000280758.5:p.Ser311Asn
ENST00000280758.9:c.932G>A	ENSP00000280758.5:p.Ser311Asn
ENST00000420571.6:c.932G>A	ENSP00000413889.2:p.Ser311Asn
ENST00000490090.6:c.932G>A	ENSP00000447319.1:p.Ser311Asn
NM_001018072.1:c.932G>A	NP_001018082.1:p.Ser311Asn
XM_011537908.1:c.932G>A	XP_011536210.1:p.Ser311Asn
NM_001347943.1:c.932G>A	NP_001334872.1:p.Ser311Asn
XM_017018807.2:c.932G>A	XP_016874296.1:p.Ser311Asn
NM_001018072.2:c.932G>A MANE Select	NP_001018082.1:p.Ser311Asn
NM_001347943.2:c.932G>A	NP_001334872.1:p.Ser311Asn