Canonical Allele Identifier: CA16044328

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 375531
• ClinVar RCV Id: RCV002521496
• dbSNP Id: rs1057519549
• MyVariant Identifiers: chr15:g.26812802G>A (hg19) ; chr15:g.26567655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567655G>A , CM000677.2:g.26567655G>A	GRCh38
NC_000015.9:g.26812802G>A , CM000677.1:g.26812802G>A	GRCh37
NC_000015.8:g.24363895G>A	NCBI36
NG_012836.1:g.211126C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.761C>T	ENSP00000299267.4:p.Ser254Phe
ENST00000311550.10:c.761C>T MANE Select	ENSP00000308725.5:p.Ser254Phe
ENST00000635832.1:n.804C>T
ENST00000635994.1:c.444C>T
ENST00000636466.1:c.506C>T	ENSP00000489768.1:p.Ser169Phe
ENST00000638099.1:c.662C>T	ENSP00000490678.1:p.Ser221Phe
ENST00000299267.8:c.761C>T	ENSP00000299267.4:p.Ser254Phe
ENST00000311550.9:c.761C>T	ENSP00000308725.5:p.Ser254Phe
ENST00000400188.7:c.548C>T	ENSP00000383049.3:p.Ser183Phe
ENST00000541819.6:c.929C>T	ENSP00000442408.2:p.Ser310Phe
ENST00000545868.4:c.506C>T	ENSP00000439169.1:p.Ser169Phe
ENST00000554556.5:c.*222C>T	ENSP00000451077.1:n.*222C>T
ENST00000555094.5:n.673C>T
ENST00000555632.5:c.*593C>T	ENSP00000452041.1:n.*593C>T
ENST00000557765.1:n.432C>T
ENST00000622697.4:c.506C>T	ENSP00000481004.1:p.Ser169Phe
ENST00000628124.2:c.506C>T	ENSP00000486819.1:p.Ser169Phe
NM_000814.5:c.761C>T	NP_000805.1:p.Ser254Phe
NM_001191320.1:c.506C>T	NP_001178249.1:p.Ser169Phe
NM_001191321.2:c.548C>T	NP_001178250.1:p.Ser183Phe
NM_001278631.1:c.506C>T	NP_001265560.1:p.Ser169Phe
NM_021912.4:c.761C>T	NP_068712.1:p.Ser254Phe
XM_011521428.1:c.584C>T	XP_011519730.1:p.Ser195Phe
XM_011521428.3:c.584C>T	XP_011519730.1:p.Ser195Phe
NM_000814.6:c.761C>T MANE Select	NP_000805.1:p.Ser254Phe
NM_001191321.3:c.548C>T	NP_001178250.1:p.Ser183Phe
NM_021912.5:c.761C>T	NP_068712.1:p.Ser254Phe
NM_001191320.2:c.506C>T	NP_001178249.1:p.Ser169Phe
NM_001278631.2:c.506C>T	NP_001265560.1:p.Ser169Phe