Canonical Allele Identifier: CA7437396

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 1367405
• ClinVar RCV Id: RCV001947284
• dbSNP Id: rs749931408
• ExAC: 15:26825511 T / C
• gnomAD v2: 15-26825511-T-C
• gnomAD v4: 15-26580364-T-C
• MyVariant Identifiers: chr15:g.26825511T>C (hg19) ; chr15:g.26580364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580364T>C , CM000677.2:g.26580364T>C	GRCh38
NC_000015.9:g.26825511T>C , CM000677.1:g.26825511T>C	GRCh37
NC_000015.8:g.24376604T>C	NCBI36
NG_012836.1:g.198417A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.637A>G	ENSP00000299267.4:p.Ile213Val
ENST00000311550.10:c.637A>G MANE Select	ENSP00000308725.5:p.Ile213Val
ENST00000635832.1:n.680A>G
ENST00000635994.1:c.320A>G
ENST00000636466.1:c.382A>G	ENSP00000489768.1:p.Ile128Val
ENST00000638099.1:c.538A>G	ENSP00000490678.1:p.Ile180Val
ENST00000299267.8:c.637A>G	ENSP00000299267.4:p.Ile213Val
ENST00000311550.9:c.637A>G	ENSP00000308725.5:p.Ile213Val
ENST00000400188.7:c.424A>G	ENSP00000383049.3:p.Ile142Val
ENST00000541819.6:c.805A>G	ENSP00000442408.2:p.Ile269Val
ENST00000545868.4:c.382A>G	ENSP00000439169.1:p.Ile128Val
ENST00000554556.5:c.*98A>G	ENSP00000451077.1:n.*98A>G
ENST00000555094.5:n.549A>G
ENST00000555632.5:c.*469A>G	ENSP00000452041.1:n.*469A>G
ENST00000557765.1:n.308A>G
ENST00000622697.4:c.382A>G	ENSP00000481004.1:p.Ile128Val
ENST00000628124.2:c.382A>G	ENSP00000486819.1:p.Ile128Val
NM_000814.5:c.637A>G	NP_000805.1:p.Ile213Val
NM_001191320.1:c.382A>G	NP_001178249.1:p.Ile128Val
NM_001191321.2:c.424A>G	NP_001178250.1:p.Ile142Val
NM_001278631.1:c.382A>G	NP_001265560.1:p.Ile128Val
NM_021912.4:c.637A>G	NP_068712.1:p.Ile213Val
XM_011521428.1:c.460A>G	XP_011519730.1:p.Ile154Val
XM_011521428.3:c.460A>G	XP_011519730.1:p.Ile154Val
NM_000814.6:c.637A>G MANE Select	NP_000805.1:p.Ile213Val
NM_001191321.3:c.424A>G	NP_001178250.1:p.Ile142Val
NM_021912.5:c.637A>G	NP_068712.1:p.Ile213Val
NM_001191320.2:c.382A>G	NP_001178249.1:p.Ile128Val
NM_001278631.2:c.382A>G	NP_001265560.1:p.Ile128Val