Canonical Allele Identifier: CA146972
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93431
dbSNP Id: rs2279020

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895883G>A , CM000667.2:g.161895883G>A GRCh38
NC_000005.9:g.161322889G>A , CM000667.1:g.161322889G>A GRCh37
NC_000005.8:g.161255467G>A NCBI36
NG_011548.1:g.53693G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.1059+15G>A MANE Select ENSP00000377517.4:p.=
ENST00000635880.1:c.1059+15G>A ENSP00000489738.1:p.=
ENST00000636340.1:c.*908+15G>A ENSP00000490002.1:p.=
ENST00000636573.1:c.1059+15G>A ENSP00000490320.1:p.=
ENST00000637044.1:c.*833+15G>A ENSP00000490684.1:p.=
ENST00000637827.1:c.1059+15G>A ENSP00000490804.1:p.=
ENST00000638112.1:c.1059+15G>A ENSP00000489839.1:p.=
ENST00000638159.1:c.1104+15G>A ENSP00000490360.1:p.=
ENST00000023897.10:c.1059+15G>A ENSP00000023897.6:p.=
ENST00000393943.9:c.1059+15G>A ENSP00000377517.4:p.=
ENST00000428797.7:c.1059+15G>A ENSP00000393097.2:p.=
ENST00000437025.6:c.1059+15G>A ENSP00000415441.2:p.=
NM_000806.5:c.1059+15G>A NP_000797.2:p.=
NM_001127643.1:c.1059+15G>A NP_001121115.1:p.=
NM_001127644.1:c.1059+15G>A NP_001121116.1:p.=
NM_001127645.1:c.1059+15G>A NP_001121117.1:p.=
NM_001127648.1:c.1059+15G>A NP_001121120.1:p.=
NM_001127644.2:c.1059+15G>A MANE Select NP_001121116.1:p.=
NM_001127643.2:c.1059+15G>A NP_001121115.1:p.=
NM_001127645.2:c.1059+15G>A NP_001121117.1:p.=
NM_001127648.2:c.1059+15G>A NP_001121120.1:p.=