Canonical Allele Identifier: CA214944
Gene: GABRB3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.26773681G>A
GRCh37 chr15:g.27018828G>A
Revel Score:
ENST00000299267 0.440
gnomAD v2:
15:27018828 G / A
gnomAD v3:
15:26773681 G / A
gnomAD v4:
chr15-26773681-G-A
Joint Max Group AF 0.00053754 (AMR)
Genomes Max Group AF 0.00081223 (AMR)
Exomes Max Group AF 0.0003376 (AMR)
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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
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