Canonical Allele Identifier: CA214942

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 16191
• ClinVar RCV Id: RCV000017575 ; RCV000203153 ; RCV000989276 ; RCV001511952 ; RCV001701568 ; RCV002313713 ; RCV003224101 ; RCV003934836
• dbSNP Id: rs25409
• ExAC: 15:27018841 G / A
• gnomAD v2: 15-27018841-G-A
• gnomAD v3: 15-26773694-G-A
• gnomAD v4: 15-26773694-G-A
• MyVariant Identifiers: chr15:g.27018841G>A (hg19) ; chr15:g.26773694G>A (hg38)
• PubMed: PMID:18514161 ; PMID:19935738 ; PMID:20550555 ; PMID:25726841 ; PMID:26845707 ; PMID:26950270

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773694G>A , CM000677.2:g.26773694G>A	GRCh38
NC_000015.9:g.27018841G>A , CM000677.1:g.27018841G>A	GRCh37
NC_000015.8:g.24569934G>A	NCBI36
NG_012836.1:g.5087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.31C>T	ENSP00000299267.4:p.Pro11Ser
ENST00000638099.1:c.-20+249C>T	ENSP00000490678.1:n.-20+249C>T
ENST00000299267.8:c.31C>T	ENSP00000299267.4:p.Pro11Ser
ENST00000541819.6:c.249-922C>T	ENSP00000442408.2:n.249-922C>T
ENST00000554722.1:n.58C>T
ENST00000557641.5:n.453-922C>T
NM_021912.4:c.31C>T	NP_068712.1:p.Pro11Ser
NM_021912.5:c.31C>T	NP_068712.1:p.Pro11Ser