Canonical Allele Identifier: CA1596234323
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161873166T= , CM000667.2:g.161873166T= GRCh38
NC_000005.9:g.161300172T= , CM000667.1:g.161300172T= GRCh37
NC_000005.8:g.161232750T= NCBI36
NG_011548.1:g.30976T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393943.10:c.305T= MANE Select ENSP00000377517.4:p.Leu102=
ENST00000635880.1:c.305T= ENSP00000489738.1:p.Leu102=
ENST00000635916.2:n.1080T=
ENST00000636340.1:c.*154T= ENSP00000490002.1:n.*154T=
ENST00000636408.1:n.109T=
ENST00000636573.1:c.305T= ENSP00000490320.1:p.Leu102=
ENST00000637044.1:c.*79T= ENSP00000490684.1:n.*79T=
ENST00000637827.1:c.305T= ENSP00000490804.1:p.Leu102=
ENST00000638112.1:c.305T= ENSP00000489839.1:p.Leu102=
ENST00000638159.1:c.350T= ENSP00000490360.1:p.Leu117=
ENST00000023897.10:c.305T= ENSP00000023897.6:p.Leu102=
ENST00000393943.9:c.305T= ENSP00000377517.4:p.Leu102=
ENST00000428797.7:c.305T= ENSP00000393097.2:p.Leu102=
ENST00000437025.6:c.305T= ENSP00000415441.2:p.Leu102=
ENST00000519542.1:n.69T=
ENST00000519621.2:c.305T= ENSP00000430435.2:p.Leu102=
ENST00000634335.1:c.305T= ENSP00000489434.1:p.Leu102=
NM_000806.5:c.305T= NP_000797.2:p.Leu102=
NM_001127643.1:c.305T= NP_001121115.1:p.Leu102=
NM_001127644.1:c.305T= NP_001121116.1:p.Leu102=
NM_001127645.1:c.305T= NP_001121117.1:p.Leu102=
NM_001127648.1:c.305T= NP_001121120.1:p.Leu102=
NM_001127644.2:c.305T= MANE Select NP_001121116.1:p.Leu102=
NM_001127643.2:c.305T= NP_001121115.1:p.Leu102=
NM_001127645.2:c.305T= NP_001121117.1:p.Leu102=
NM_001127648.2:c.305T= NP_001121120.1:p.Leu102=