Canonical Allele Identifier: CA2165922802
Gene: GABRA5 HGNC NCBI
GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26915388C>A , CM000677.2:g.26915388C>A GRCh38
NC_000015.9:g.27160535C>A , CM000677.1:g.27160535C>A GRCh37
NC_000015.8:g.24743281C>A NCBI36
NG_032883.1:g.53670C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335625.10:c.580+503C>A (GABRA5) MANE Select ENSP00000335592.5:n.580+503C>A
ENST00000335625.9:c.580+503C>A (GABRA5) ENSP00000335592.5:n.580+503C>A
ENST00000355395.9:c.580+503C>A (GABRA5) ENSP00000347557.5:n.580+503C>A
ENST00000400081.7:c.580+503C>A (GABRA5) ENSP00000382953.3:n.580+503C>A
ENST00000541819.6:c.200+23849G>T (GABRB3) ENSP00000442408.2:n.200+23849G>T
ENST00000555182.5:c.484+503C>A (GABRA5) ENSP00000450653.1:n.484+503C>A
NM_000810.3:c.580+503C>A (GABRA5) NP_000801.1:n.580+503C>A
NM_001165037.1:c.580+503C>A (GABRA5) NP_001158509.1:n.580+503C>A
XM_005268258.1:c.580+503C>A (GABRA5) XP_005268315.1:n.580+503C>A
XM_006720459.1:c.580+503C>A (GABRA5) XP_006720522.1:n.580+503C>A
XM_005268258.2:c.580+503C>A (GABRA5) XP_005268315.1:n.580+503C>A
XM_006720459.2:c.580+503C>A (GABRA5) XP_006720522.1:n.580+503C>A
XM_017022055.1:c.580+503C>A (GABRA5) XP_016877544.1:n.580+503C>A
XM_017022056.1:c.580+503C>A (GABRA5) XP_016877545.1:n.580+503C>A
NM_000810.4:c.580+503C>A (GABRA5) MANE Select NP_000801.1:n.580+503C>A
NM_001165037.2:c.580+503C>A (GABRA5) NP_001158509.1:n.580+503C>A