Canonical Allele Identifier: CA10586387

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26621417C>T , CM000677.2:g.26621417C>T	GRCh38
NC_000015.9:g.26866564C>T , CM000677.1:g.26866564C>T	GRCh37
NC_000015.8:g.24417657C>T	NCBI36
NG_012836.1:g.157364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.358G>A	ENSP00000299267.4:p.Asp120Asn
ENST00000311550.10:c.358G>A MANE Select	ENSP00000308725.5:p.Asp120Asn
ENST00000635832.1:n.401G>A
ENST00000635994.1:c.41G>A
ENST00000636466.1:c.103G>A	ENSP00000489768.1:p.Asp35Asn
ENST00000638099.1:c.259G>A	ENSP00000490678.1:p.Asp87Asn
ENST00000299267.8:c.358G>A	ENSP00000299267.4:p.Asp120Asn
ENST00000311550.9:c.358G>A	ENSP00000308725.5:p.Asp120Asn
ENST00000400188.7:c.145G>A	ENSP00000383049.3:p.Asp49Asn
ENST00000541819.6:c.526G>A	ENSP00000442408.2:p.Asp176Asn
ENST00000545868.4:c.103G>A	ENSP00000439169.1:p.Asp35Asn
ENST00000554556.5:c.241-38003G>A	ENSP00000451077.1:n.241-38003G>A
ENST00000555094.5:n.270G>A
ENST00000555632.5:c.*190G>A	ENSP00000452041.1:n.*190G>A
ENST00000556166.2:n.1068G>A
ENST00000622697.4:c.103G>A	ENSP00000481004.1:p.Asp35Asn
ENST00000628124.2:c.103G>A	ENSP00000486819.1:p.Asp35Asn
NM_000814.5:c.358G>A	NP_000805.1:p.Asp120Asn
NM_001191320.1:c.103G>A	NP_001178249.1:p.Asp35Asn
NM_001191321.2:c.145G>A	NP_001178250.1:p.Asp49Asn
NM_001278631.1:c.103G>A	NP_001265560.1:p.Asp35Asn
NM_021912.4:c.358G>A	NP_068712.1:p.Asp120Asn
NR_103801.1:n.1068G>A
XM_011521428.1:c.181G>A	XP_011519730.1:p.Asp61Asn
XM_011521428.3:c.181G>A	XP_011519730.1:p.Asp61Asn
NM_000814.6:c.358G>A MANE Select	NP_000805.1:p.Asp120Asn
NM_001191321.3:c.145G>A	NP_001178250.1:p.Asp49Asn
NM_021912.5:c.358G>A	NP_068712.1:p.Asp120Asn
NR_103801.2:n.980G>A
NM_001191320.2:c.103G>A	NP_001178249.1:p.Asp35Asn
NM_001278631.2:c.103G>A	NP_001265560.1:p.Asp35Asn