Canonical Allele Identifier: CA151360
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127074
dbSNP Id: rs587777308

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161873196G>A , CM000667.2:g.161873196G>A GRCh38
NC_000005.9:g.161300202G>A , CM000667.1:g.161300202G>A GRCh37
NC_000005.8:g.161232780G>A NCBI36
NG_011548.1:g.31006G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.335G>A MANE Select ENSP00000377517.4:p.Arg112Gln
ENST00000635880.1:c.335G>A ENSP00000489738.1:p.Arg112Gln
ENST00000636340.1:c.*184G>A ENSP00000490002.1:p.=
ENST00000636573.1:c.335G>A ENSP00000490320.1:p.Arg112Gln
ENST00000637044.1:c.*109G>A ENSP00000490684.1:p.=
ENST00000637827.1:c.335G>A ENSP00000490804.1:p.Arg112Gln
ENST00000638112.1:c.335G>A ENSP00000489839.1:p.Arg112Gln
ENST00000638159.1:c.380G>A ENSP00000490360.1:p.Arg127Gln
ENST00000023897.10:c.335G>A ENSP00000023897.6:p.Arg112Gln
ENST00000393943.9:c.335G>A ENSP00000377517.4:p.Arg112Gln
ENST00000428797.7:c.335G>A ENSP00000393097.2:p.Arg112Gln
ENST00000437025.6:c.335G>A ENSP00000415441.2:p.Arg112Gln
ENST00000519621.2:c.335G>A ENSP00000430435.2:p.Arg112Gln
ENST00000634335.1:c.335G>A ENSP00000489434.1:p.Arg112Gln
NM_000806.5:c.335G>A NP_000797.2:p.Arg112Gln
NM_001127643.1:c.335G>A NP_001121115.1:p.Arg112Gln
NM_001127644.1:c.335G>A NP_001121116.1:p.Arg112Gln
NM_001127645.1:c.335G>A NP_001121117.1:p.Arg112Gln
NM_001127648.1:c.335G>A NP_001121120.1:p.Arg112Gln
NM_001127644.2:c.335G>A MANE Select NP_001121116.1:p.Arg112Gln
NM_001127643.2:c.335G>A NP_001121115.1:p.Arg112Gln
NM_001127645.2:c.335G>A NP_001121117.1:p.Arg112Gln
NM_001127648.2:c.335G>A NP_001121120.1:p.Arg112Gln