Canonical Allele Identifier: CA7437344

Gene: GABRB3

Linked Data

• dbSNP Id: rs774730483
• ExAC: 15:26806289 G / A
• gnomAD v2: 15-26806289-G-A
• gnomAD v4: 15-26561142-G-A
• MyVariant Identifiers: chr15:g.26806289G>A (hg19) ; chr15:g.26561142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561142G>A , CM000677.2:g.26561142G>A	GRCh38
NC_000015.9:g.26806289G>A , CM000677.1:g.26806289G>A	GRCh37
NC_000015.8:g.24357382G>A	NCBI36
NG_012836.1:g.217639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.870C>T	ENSP00000299267.4:p.Asn290=
ENST00000311550.10:c.870C>T MANE Select	ENSP00000308725.5:p.Asn290=
ENST00000635832.1:n.913C>T
ENST00000635994.1:c.553C>T
ENST00000636466.1:c.615C>T	ENSP00000489768.1:p.Asn205=
ENST00000638099.1:c.771C>T	ENSP00000490678.1:p.Asn257=
ENST00000299267.8:c.870C>T	ENSP00000299267.4:p.Asn290=
ENST00000311550.9:c.870C>T	ENSP00000308725.5:p.Asn290=
ENST00000400188.7:c.657C>T	ENSP00000383049.3:p.Asn219=
ENST00000541819.6:c.1038C>T	ENSP00000442408.2:p.Asn346=
ENST00000545868.4:c.615C>T	ENSP00000439169.1:p.Asn205=
ENST00000554556.5:c.*331C>T	ENSP00000451077.1:n.*331C>T
ENST00000555094.5:n.782C>T
ENST00000555632.5:c.*702C>T	ENSP00000452041.1:n.*702C>T
ENST00000557765.1:n.541C>T
ENST00000622697.4:c.615C>T	ENSP00000481004.1:p.Asn205=
ENST00000628124.2:c.615C>T	ENSP00000486819.1:p.Asn205=
NM_000814.5:c.870C>T	NP_000805.1:p.Asn290=
NM_001191320.1:c.615C>T	NP_001178249.1:p.Asn205=
NM_001191321.2:c.657C>T	NP_001178250.1:p.Asn219=
NM_001278631.1:c.615C>T	NP_001265560.1:p.Asn205=
NM_021912.4:c.870C>T	NP_068712.1:p.Asn290=
XM_011521428.1:c.693C>T	XP_011519730.1:p.Asn231=
XM_011521428.3:c.693C>T	XP_011519730.1:p.Asn231=
NM_000814.6:c.870C>T MANE Select	NP_000805.1:p.Asn290=
NM_001191321.3:c.657C>T	NP_001178250.1:p.Asn219=
NM_021912.5:c.870C>T	NP_068712.1:p.Asn290=
NM_001191320.2:c.615C>T	NP_001178249.1:p.Asn205=
NM_001278631.2:c.615C>T	NP_001265560.1:p.Asn205=