Canonical Allele Identifier: CA279644
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217878
ClinVar RCV Id: RCV000201943
dbSNP Id: rs863225292

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895711G>A , CM000667.2:g.161895711G>A GRCh38
NC_000005.9:g.161322717G>A , CM000667.1:g.161322717G>A GRCh37
NC_000005.8:g.161255295G>A NCBI36
NG_011548.1:g.53521G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.902G>A MANE Select ENSP00000377517.4:p.Arg301Lys
ENST00000635880.1:c.902G>A ENSP00000489738.1:p.Arg301Lys
ENST00000635916.2:n.2503G>A
ENST00000636340.1:c.*751G>A ENSP00000490002.1:p.=
ENST00000636408.1:n.706G>A
ENST00000636573.1:c.902G>A ENSP00000490320.1:p.Arg301Lys
ENST00000637044.1:c.*676G>A ENSP00000490684.1:p.=
ENST00000637827.1:c.902G>A ENSP00000490804.1:p.Arg301Lys
ENST00000638112.1:c.902G>A ENSP00000489839.1:p.Arg301Lys
ENST00000638159.1:c.947G>A ENSP00000490360.1:p.Arg316Lys
ENST00000023897.10:c.902G>A ENSP00000023897.6:p.Arg301Lys
ENST00000393943.9:c.902G>A ENSP00000377517.4:p.Arg301Lys
ENST00000428797.7:c.902G>A ENSP00000393097.2:p.Arg301Lys
ENST00000437025.6:c.902G>A ENSP00000415441.2:p.Arg301Lys
NM_000806.5:c.902G>A NP_000797.2:p.Arg301Lys
NM_001127643.1:c.902G>A NP_001121115.1:p.Arg301Lys
NM_001127644.1:c.902G>A NP_001121116.1:p.Arg301Lys
NM_001127645.1:c.902G>A NP_001121117.1:p.Arg301Lys
NM_001127648.1:c.902G>A NP_001121120.1:p.Arg301Lys
NM_001127644.2:c.902G>A MANE Select NP_001121116.1:p.Arg301Lys
NM_001127643.2:c.902G>A NP_001121115.1:p.Arg301Lys
NM_001127645.2:c.902G>A NP_001121117.1:p.Arg301Lys
NM_001127648.2:c.902G>A NP_001121120.1:p.Arg301Lys