Canonical Allele Identifier: CA617090538

Gene: GABRB3

Linked Data

• dbSNP Id: rs1463623149
• gnomAD v2: 15-26806352-T-G
• gnomAD v4: 15-26561205-T-G
• MyVariant Identifiers: chr15:g.26806352T>G (hg19) ; chr15:g.26561205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561205T>G , CM000677.2:g.26561205T>G	GRCh38
NC_000015.9:g.26806352T>G , CM000677.1:g.26806352T>G	GRCh37
NC_000015.8:g.24357445T>G	NCBI36
NG_012836.1:g.217576A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.836-29A>C	ENSP00000299267.4:n.836-29A>C
ENST00000311550.10:c.836-29A>C MANE Select	ENSP00000308725.5:n.836-29A>C
ENST00000635832.1:n.879-29A>C
ENST00000635994.1:c.519-29A>C
ENST00000636466.1:c.581-29A>C	ENSP00000489768.1:n.581-29A>C
ENST00000638099.1:c.737-29A>C	ENSP00000490678.1:n.737-29A>C
ENST00000299267.8:c.836-29A>C	ENSP00000299267.4:n.836-29A>C
ENST00000311550.9:c.836-29A>C	ENSP00000308725.5:n.836-29A>C
ENST00000400188.7:c.623-29A>C	ENSP00000383049.3:n.623-29A>C
ENST00000541819.6:c.1004-29A>C	ENSP00000442408.2:n.1004-29A>C
ENST00000545868.4:c.581-29A>C	ENSP00000439169.1:n.581-29A>C
ENST00000554556.5:c.*297-29A>C	ENSP00000451077.1:n.*297-29A>C
ENST00000555094.5:n.748-29A>C
ENST00000555632.5:c.*668-29A>C	ENSP00000452041.1:n.*668-29A>C
ENST00000557765.1:n.507-29A>C
ENST00000622697.4:c.581-29A>C	ENSP00000481004.1:n.581-29A>C
ENST00000628124.2:c.581-29A>C	ENSP00000486819.1:n.581-29A>C
NM_000814.5:c.836-29A>C	NP_000805.1:n.836-29A>C
NM_001191320.1:c.581-29A>C	NP_001178249.1:n.581-29A>C
NM_001191321.2:c.623-29A>C	NP_001178250.1:n.623-29A>C
NM_001278631.1:c.581-29A>C	NP_001265560.1:n.581-29A>C
NM_021912.4:c.836-29A>C	NP_068712.1:n.836-29A>C
XM_011521428.1:c.659-29A>C	XP_011519730.1:n.659-29A>C
XM_011521428.3:c.659-29A>C	XP_011519730.1:n.659-29A>C
NM_000814.6:c.836-29A>C MANE Select	NP_000805.1:n.836-29A>C
NM_001191321.3:c.623-29A>C	NP_001178250.1:n.623-29A>C
NM_021912.5:c.836-29A>C	NP_068712.1:n.836-29A>C
NM_001191320.2:c.581-29A>C	NP_001178249.1:n.581-29A>C
NM_001278631.2:c.581-29A>C	NP_001265560.1:n.581-29A>C