Canonical Allele Identifier: CA2551608056
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161857828A>T , CM000667.2:g.161857828A>T GRCh38
NC_000005.9:g.161284834A>T , CM000667.1:g.161284834A>T GRCh37
NC_000005.8:g.161217412A>T NCBI36
NG_011548.1:g.15638A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.187+3558A>T MANE Select ENSP00000377517.4:n.187+3558A>T
ENST00000635880.1:c.187+3558A>T ENSP00000489738.1:n.187+3558A>T
ENST00000635916.2:n.962+3558A>T
ENST00000636340.1:c.*36+3558A>T ENSP00000490002.1:n.*36+3558A>T
ENST00000636573.1:c.187+3558A>T ENSP00000490320.1:n.187+3558A>T
ENST00000637044.1:c.187+3558A>T ENSP00000490684.1:n.187+3558A>T
ENST00000637827.1:c.187+3558A>T ENSP00000490804.1:n.187+3558A>T
ENST00000638112.1:c.187+3558A>T ENSP00000489839.1:n.187+3558A>T
ENST00000638159.1:c.232+3558A>T ENSP00000490360.1:n.232+3558A>T
ENST00000023897.10:c.187+3558A>T ENSP00000023897.6:n.187+3558A>T
ENST00000393943.9:c.187+3558A>T ENSP00000377517.4:n.187+3558A>T
ENST00000428797.7:c.187+3558A>T ENSP00000393097.2:n.187+3558A>T
ENST00000437025.6:c.187+3558A>T ENSP00000415441.2:n.187+3558A>T
ENST00000519621.2:c.187+3558A>T ENSP00000430435.2:n.187+3558A>T
ENST00000521339.5:c.205+3558A>T ENSP00000430895.1:n.205+3558A>T
ENST00000522651.6:c.250+3558A>T ENSP00000430507.2:n.250+3558A>T
ENST00000634335.1:c.187+3558A>T ENSP00000489434.1:n.187+3558A>T
NM_000806.5:c.187+3558A>T NP_000797.2:n.187+3558A>T
NM_001127643.1:c.187+3558A>T NP_001121115.1:n.187+3558A>T
NM_001127644.1:c.187+3558A>T NP_001121116.1:n.187+3558A>T
NM_001127645.1:c.187+3558A>T NP_001121117.1:n.187+3558A>T
NM_001127648.1:c.187+3558A>T NP_001121120.1:n.187+3558A>T
NM_001127644.2:c.187+3558A>T MANE Select NP_001121116.1:n.187+3558A>T
NM_001127643.2:c.187+3558A>T NP_001121115.1:n.187+3558A>T
NM_001127645.2:c.187+3558A>T NP_001121117.1:n.187+3558A>T
NM_001127648.2:c.187+3558A>T NP_001121120.1:n.187+3558A>T