Canonical Allele Identifier: CA616945588

Gene: GABRB3

Linked Data

• dbSNP Id: rs1224932343
• gnomAD v2: 15-26825617-A-C
• gnomAD v4: 15-26580470-A-C
• MyVariant Identifiers: chr15:g.26825617A>C (hg19) ; chr15:g.26580470A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580470A>C , CM000677.2:g.26580470A>C	GRCh38
NC_000015.9:g.26825617A>C , CM000677.1:g.26825617A>C	GRCh37
NC_000015.8:g.24376710A>C	NCBI36
NG_012836.1:g.198311T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.545-14T>G	ENSP00000299267.4:n.545-14T>G
ENST00000311550.10:c.545-14T>G MANE Select	ENSP00000308725.5:n.545-14T>G
ENST00000635832.1:n.588-14T>G
ENST00000635994.1:c.228-14T>G
ENST00000636466.1:c.290-14T>G	ENSP00000489768.1:n.290-14T>G
ENST00000638099.1:c.446-14T>G	ENSP00000490678.1:n.446-14T>G
ENST00000299267.8:c.545-14T>G	ENSP00000299267.4:n.545-14T>G
ENST00000311550.9:c.545-14T>G	ENSP00000308725.5:n.545-14T>G
ENST00000400188.7:c.332-14T>G	ENSP00000383049.3:n.332-14T>G
ENST00000541819.6:c.713-14T>G	ENSP00000442408.2:n.713-14T>G
ENST00000545868.4:c.290-14T>G	ENSP00000439169.1:n.290-14T>G
ENST00000554556.5:c.*6-14T>G	ENSP00000451077.1:n.*6-14T>G
ENST00000555094.5:n.457-14T>G
ENST00000555632.5:c.*377-14T>G	ENSP00000452041.1:n.*377-14T>G
ENST00000557765.1:n.202T>G
ENST00000622697.4:c.290-14T>G	ENSP00000481004.1:n.290-14T>G
ENST00000628124.2:c.290-14T>G	ENSP00000486819.1:n.290-14T>G
NM_000814.5:c.545-14T>G	NP_000805.1:n.545-14T>G
NM_001191320.1:c.290-14T>G	NP_001178249.1:n.290-14T>G
NM_001191321.2:c.332-14T>G	NP_001178250.1:n.332-14T>G
NM_001278631.1:c.290-14T>G	NP_001265560.1:n.290-14T>G
NM_021912.4:c.545-14T>G	NP_068712.1:n.545-14T>G
XM_011521428.1:c.368-14T>G	XP_011519730.1:n.368-14T>G
XM_011521428.3:c.368-14T>G	XP_011519730.1:n.368-14T>G
NM_000814.6:c.545-14T>G MANE Select	NP_000805.1:n.545-14T>G
NM_001191321.3:c.332-14T>G	NP_001178250.1:n.332-14T>G
NM_021912.5:c.545-14T>G	NP_068712.1:n.545-14T>G
NM_001191320.2:c.290-14T>G	NP_001178249.1:n.290-14T>G
NM_001278631.2:c.290-14T>G	NP_001265560.1:n.290-14T>G