Canonical Allele Identifier: CA1596259233

Gene: GABRA1

Linked Data

• dbSNP Id: rs1755446460
• gnomAD v4: 5-161897901-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161897901T>G , CM000667.2:g.161897901T>G	GRCh38
NC_000005.9:g.161324907T>G , CM000667.1:g.161324907T>G	GRCh37
NC_000005.8:g.161257485T>G	NCBI36
NG_011548.1:g.55711T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.*479T>G MANE Select	ENSP00000377517.4:n.*479T>G
ENST00000635916.2:n.4693T>G
ENST00000636340.1:c.*1699T>G	ENSP00000490002.1:n.*1699T>G
ENST00000636408.1:n.1654T>G
ENST00000636573.1:c.*479T>G	ENSP00000490320.1:n.*479T>G
ENST00000637044.1:c.*1624T>G	ENSP00000490684.1:n.*1624T>G
ENST00000638112.1:c.*479T>G	ENSP00000489839.1:n.*479T>G
ENST00000638159.1:c.*479T>G	ENSP00000490360.1:n.*479T>G
ENST00000393943.9:c.*479T>G	ENSP00000377517.4:n.*479T>G
ENST00000428797.7:c.*479T>G	ENSP00000393097.2:n.*479T>G
ENST00000437025.6:c.*479T>G	ENSP00000415441.2:n.*479T>G
NM_000806.5:c.*479T>G	NP_000797.2:n.*479T>G
NM_001127643.1:c.*479T>G	NP_001121115.1:n.*479T>G
NM_001127644.1:c.*479T>G	NP_001121116.1:n.*479T>G
NM_001127645.1:c.*479T>G	NP_001121117.1:n.*479T>G
NM_001127648.1:c.*479T>G	NP_001121120.1:n.*479T>G
NM_001127644.2:c.*479T>G MANE Select	NP_001121116.1:n.*479T>G
NM_001127643.2:c.*479T>G	NP_001121115.1:n.*479T>G
NM_001127645.2:c.*479T>G	NP_001121117.1:n.*479T>G
NM_001127648.2:c.*479T>G	NP_001121120.1:n.*479T>G