Canonical Allele Identifier: CA268193451

Gene: GABRA5 GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26883373A>G , CM000677.2:g.26883373A>G	GRCh38
NC_000015.9:g.27128520A>G , CM000677.1:g.27128520A>G	GRCh37
NC_000015.8:g.24679613A>G	NCBI36
NG_032883.1:g.21655A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000810.4:c.313A>G (GABRA5) MANE Select	NP_000801.1:p.Lys105Glu
ENST00000335625.10:c.313A>G (GABRA5) MANE Select	ENSP00000335592.5:p.Lys105Glu
NM_000810.3:c.313A>G (GABRA5)	NP_000801.1:p.Lys105Glu
NM_001165037.1:c.313A>G (GABRA5)	NP_001158509.1:p.Lys105Glu
NM_001165037.2:c.313A>G (GABRA5)	NP_001158509.1:p.Lys105Glu
ENST00000335625.9:c.313A>G (GABRA5)	ENSP00000335592.5:p.Lys105Glu
ENST00000355395.9:c.313A>G (GABRA5)	ENSP00000347557.5:p.Lys105Glu
ENST00000400081.7:c.313A>G (GABRA5)	ENSP00000382953.3:p.Lys105Glu
ENST00000541819.6:c.200+55864T>C (GABRB3)	ENSP00000442408.2:n.200+55864T>C
ENST00000554083.1:c.217A>G (GABRA5)	ENSP00000450529.1:p.Lys73Glu
ENST00000554596.5:c.313A>G (GABRA5)	ENSP00000450806.1:p.Lys105Glu
ENST00000554599.5:c.313A>G (GABRA5)	ENSP00000450717.1:p.Lys105Glu
ENST00000555182.5:c.217A>G (GABRA5)	ENSP00000450653.1:p.Lys73Glu
ENST00000557449.5:n.521+2406A>G (GABRA5)
XM_005268258.1:c.313A>G (GABRA5)	XP_005268315.1:p.Lys105Glu
XM_005268258.2:c.313A>G (GABRA5)	XP_005268315.1:p.Lys105Glu
XM_006720459.1:c.313A>G (GABRA5)	XP_006720522.1:p.Lys105Glu
XM_006720459.2:c.313A>G (GABRA5)	XP_006720522.1:p.Lys105Glu
XM_017022055.1:c.313A>G (GABRA5)	XP_016877544.1:p.Lys105Glu
XM_017022056.1:c.313A>G (GABRA5)	XP_016877545.1:p.Lys105Glu