gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26915388C>T , CM000677.2:g.26915388C>T | GRCh38 |
| NC_000015.9:g.27160535C>T , CM000677.1:g.27160535C>T | GRCh37 |
| NC_000015.8:g.24743281C>T | NCBI36 |
| NG_032883.1:g.53670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335625.10:c.580+503C>T (GABRA5) MANE Select | ENSP00000335592.5:n.580+503C>T | |
| ENST00000335625.9:c.580+503C>T (GABRA5) | ENSP00000335592.5:n.580+503C>T | |
| ENST00000355395.9:c.580+503C>T (GABRA5) | ENSP00000347557.5:n.580+503C>T | |
| ENST00000400081.7:c.580+503C>T (GABRA5) | ENSP00000382953.3:n.580+503C>T | |
| ENST00000541819.6:c.200+23849G>A (GABRB3) | ENSP00000442408.2:n.200+23849G>A | |
| ENST00000555182.5:c.484+503C>T (GABRA5) | ENSP00000450653.1:n.484+503C>T | |
| NM_000810.3:c.580+503C>T (GABRA5) | NP_000801.1:n.580+503C>T | |
| NM_001165037.1:c.580+503C>T (GABRA5) | NP_001158509.1:n.580+503C>T | |
| XM_005268258.1:c.580+503C>T (GABRA5) | XP_005268315.1:n.580+503C>T | |
| XM_006720459.1:c.580+503C>T (GABRA5) | XP_006720522.1:n.580+503C>T | |
| XM_005268258.2:c.580+503C>T (GABRA5) | XP_005268315.1:n.580+503C>T | |
| XM_006720459.2:c.580+503C>T (GABRA5) | XP_006720522.1:n.580+503C>T | |
| XM_017022055.1:c.580+503C>T (GABRA5) | XP_016877544.1:n.580+503C>T | |
| XM_017022056.1:c.580+503C>T (GABRA5) | XP_016877545.1:n.580+503C>T | |
| NM_000810.4:c.580+503C>T (GABRA5) MANE Select | NP_000801.1:n.580+503C>T | |
| NM_001165037.2:c.580+503C>T (GABRA5) | NP_001158509.1:n.580+503C>T |