Canonical Allele Identifier: CA967934167
Gene: GABRB3 HGNC NCBI

Linked Data

dbSNP Id: rs1362381892
gnomAD v3: 15-26773791-G-A
gnomAD v4: 15-26773791-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26773791G>A , CM000677.2:g.26773791G>A GRCh38
NC_000015.9:g.27018938G>A , CM000677.1:g.27018938G>A GRCh37
NC_000015.8:g.24570031G>A NCBI36
NG_012836.1:g.4990C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638099.1:c.-20+152C>T ENSP00000490678.1:n.-20+152C>T
ENST00000541819.6:c.249-1019C>T ENSP00000442408.2:n.249-1019C>T
ENST00000557641.5:n.453-1019C>T
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