Canonical Allele Identifier: CA362178715
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1796428
ClinVar RCV Id: RCV002441802
dbSNP Id: rs1164973274
COSMIC: COSM77748

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161873142G>A , CM000667.2:g.161873142G>A GRCh38
NC_000005.9:g.161300148G>A , CM000667.1:g.161300148G>A GRCh37
NC_000005.8:g.161232726G>A NCBI36
NG_011548.1:g.30952G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.281G>A MANE Select ENSP00000377517.4:p.Arg94His
ENST00000635880.1:c.281G>A ENSP00000489738.1:p.Arg94His
ENST00000635916.2:n.1056G>A
ENST00000636340.1:c.*130G>A ENSP00000490002.1:n.*130G>A
ENST00000636408.1:n.85G>A
ENST00000636573.1:c.281G>A ENSP00000490320.1:p.Arg94His
ENST00000637044.1:c.*55G>A ENSP00000490684.1:n.*55G>A
ENST00000637827.1:c.281G>A ENSP00000490804.1:p.Arg94His
ENST00000638112.1:c.281G>A ENSP00000489839.1:p.Arg94His
ENST00000638159.1:c.326G>A ENSP00000490360.1:p.Arg109His
ENST00000023897.10:c.281G>A ENSP00000023897.6:p.Arg94His
ENST00000393943.9:c.281G>A ENSP00000377517.4:p.Arg94His
ENST00000428797.7:c.281G>A ENSP00000393097.2:p.Arg94His
ENST00000437025.6:c.281G>A ENSP00000415441.2:p.Arg94His
ENST00000519542.1:n.45G>A
ENST00000519621.2:c.281G>A ENSP00000430435.2:p.Arg94His
ENST00000634335.1:c.281G>A ENSP00000489434.1:p.Arg94His
NM_000806.5:c.281G>A NP_000797.2:p.Arg94His
NM_001127643.1:c.281G>A NP_001121115.1:p.Arg94His
NM_001127644.1:c.281G>A NP_001121116.1:p.Arg94His
NM_001127645.1:c.281G>A NP_001121117.1:p.Arg94His
NM_001127648.1:c.281G>A NP_001121120.1:p.Arg94His
NM_001127644.2:c.281G>A MANE Select NP_001121116.1:p.Arg94His
NM_001127643.2:c.281G>A NP_001121115.1:p.Arg94His
NM_001127645.2:c.281G>A NP_001121117.1:p.Arg94His
NM_001127648.2:c.281G>A NP_001121120.1:p.Arg94His