Canonical Allele Identifier: CA214942
Gene: GABRB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16191
ClinVar RCV Id: 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
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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
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