Canonical Allele Identifier: CA214944

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 16192
• ClinVar RCV Id: RCV000017576 ; RCV000414639
• dbSNP Id: rs121913126
• ExAC: 15:27018828 G / A
• gnomAD v2: 15-27018828-G-A
• gnomAD v3: 15-26773681-G-A
• gnomAD v4: 15-26773681-G-A
• MyVariant Identifiers: chr15:g.27018828G>A (hg19) ; chr15:g.26773681G>A (hg38)
• PubMed: PMID:18514161

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773681G>A , CM000677.2:g.26773681G>A	GRCh38
NC_000015.9:g.27018828G>A , CM000677.1:g.27018828G>A	GRCh37
NC_000015.8:g.24569921G>A	NCBI36
NG_012836.1:g.5100C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.44C>T	ENSP00000299267.4:p.Ser15Phe
ENST00000638099.1:c.-20+262C>T	ENSP00000490678.1:n.-20+262C>T
ENST00000299267.8:c.44C>T	ENSP00000299267.4:p.Ser15Phe
ENST00000541819.6:c.249-909C>T	ENSP00000442408.2:n.249-909C>T
ENST00000554722.1:n.71C>T
ENST00000557641.5:n.453-909C>T
NM_021912.4:c.44C>T	NP_068712.1:p.Ser15Phe
NM_021912.5:c.44C>T	NP_068712.1:p.Ser15Phe