Canonical Allele Identifier: CA2165900891
Gene: GABRA5 HGNC NCBI
GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26869757T>G , CM000677.2:g.26869757T>G GRCh38
NC_000015.9:g.27114904T>G , CM000677.1:g.27114904T>G GRCh37
NC_000015.8:g.24665997T>G NCBI36
NG_032883.1:g.8039T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335625.10:c.86+423T>G (GABRA5) MANE Select ENSP00000335592.5:n.86+423T>G
ENST00000335625.9:c.86+423T>G (GABRA5) ENSP00000335592.5:n.86+423T>G
ENST00000355395.9:c.86+423T>G (GABRA5) ENSP00000347557.5:n.86+423T>G
ENST00000400081.7:c.86+423T>G (GABRA5) ENSP00000382953.3:n.86+423T>G
ENST00000541819.6:c.201-53343A>C (GABRB3) ENSP00000442408.2:n.201-53343A>C
ENST00000554038.5:c.86+423T>G (GABRA5) ENSP00000451527.1:n.86+423T>G
ENST00000554596.5:c.86+423T>G (GABRA5) ENSP00000450806.1:n.86+423T>G
ENST00000554599.5:c.86+423T>G (GABRA5) ENSP00000450717.1:n.86+423T>G
ENST00000555182.5:c.-11+2646T>G (GABRA5) ENSP00000450653.1:n.-11+2646T>G
ENST00000557449.5:n.399+423T>G (GABRA5)
ENST00000557484.5:n.490+423T>G (GABRA5)
NM_000810.3:c.86+423T>G (GABRA5) NP_000801.1:n.86+423T>G
NM_001165037.1:c.86+423T>G (GABRA5) NP_001158509.1:n.86+423T>G
XM_005268258.1:c.86+423T>G (GABRA5) XP_005268315.1:n.86+423T>G
XM_006720459.1:c.86+423T>G (GABRA5) XP_006720522.1:n.86+423T>G
XM_005268258.2:c.86+423T>G (GABRA5) XP_005268315.1:n.86+423T>G
XM_006720459.2:c.86+423T>G (GABRA5) XP_006720522.1:n.86+423T>G
XM_017022055.1:c.86+423T>G (GABRA5) XP_016877544.1:n.86+423T>G
XM_017022056.1:c.86+423T>G (GABRA5) XP_016877545.1:n.86+423T>G
NM_000810.4:c.86+423T>G (GABRA5) MANE Select NP_000801.1:n.86+423T>G
NM_001165037.2:c.86+423T>G (GABRA5) NP_001158509.1:n.86+423T>G