Canonical Allele Identifier: CA391460821

Gene: GABRB3

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26621403T>A , CM000677.2:g.26621403T>A	GRCh38
NC_000015.9:g.26866550T>A , CM000677.1:g.26866550T>A	GRCh37
NC_000015.8:g.24417643T>A	NCBI36
NG_012836.1:g.157378A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.372A>T	ENSP00000299267.4:p.Leu124Phe
ENST00000311550.10:c.372A>T MANE Select	ENSP00000308725.5:p.Leu124Phe
ENST00000635832.1:n.415A>T
ENST00000635994.1:c.55A>T
ENST00000636466.1:c.117A>T	ENSP00000489768.1:p.Leu39Phe
ENST00000638099.1:c.273A>T	ENSP00000490678.1:p.Leu91Phe
ENST00000299267.8:c.372A>T	ENSP00000299267.4:p.Leu124Phe
ENST00000311550.9:c.372A>T	ENSP00000308725.5:p.Leu124Phe
ENST00000400188.7:c.159A>T	ENSP00000383049.3:p.Leu53Phe
ENST00000541819.6:c.540A>T	ENSP00000442408.2:p.Leu180Phe
ENST00000545868.4:c.117A>T	ENSP00000439169.1:p.Leu39Phe
ENST00000554556.5:c.241-37989A>T	ENSP00000451077.1:n.241-37989A>T
ENST00000555094.5:n.284A>T
ENST00000555632.5:c.*204A>T	ENSP00000452041.1:n.*204A>T
ENST00000556166.2:n.1082A>T
ENST00000556636.5:c.4A>T
ENST00000622697.4:c.117A>T	ENSP00000481004.1:p.Leu39Phe
ENST00000628124.2:c.117A>T	ENSP00000486819.1:p.Leu39Phe
NM_000814.5:c.372A>T	NP_000805.1:p.Leu124Phe
NM_001191320.1:c.117A>T	NP_001178249.1:p.Leu39Phe
NM_001191321.2:c.159A>T	NP_001178250.1:p.Leu53Phe
NM_001278631.1:c.117A>T	NP_001265560.1:p.Leu39Phe
NM_021912.4:c.372A>T	NP_068712.1:p.Leu124Phe
NR_103801.1:n.1082A>T
XM_011521428.1:c.195A>T	XP_011519730.1:p.Leu65Phe
XM_011521428.3:c.195A>T	XP_011519730.1:p.Leu65Phe
NM_000814.6:c.372A>T MANE Select	NP_000805.1:p.Leu124Phe
NM_001191321.3:c.159A>T	NP_001178250.1:p.Leu53Phe
NM_021912.5:c.372A>T	NP_068712.1:p.Leu124Phe
NR_103801.2:n.994A>T
NM_001191320.2:c.117A>T	NP_001178249.1:p.Leu39Phe
NM_001278631.2:c.117A>T	NP_001265560.1:p.Leu39Phe