Canonical Allele Identifier: CA131088114

Gene: GABRA1

Linked Data

• dbSNP Id: rs559313551
• gnomAD v3: 5-161898970-A-G
• gnomAD v4: 5-161898970-A-G
• MyVariant Identifiers: chr5:g.161325976A>G (hg19) ; chr5:g.161898970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161898970A>G , CM000667.2:g.161898970A>G	GRCh38
NC_000005.9:g.161325976A>G , CM000667.1:g.161325976A>G	GRCh37
NC_000005.8:g.161258554A>G	NCBI36
NG_011548.1:g.56780A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.*1548A>G MANE Select	ENSP00000377517.4:n.*1548A>G
ENST00000636408.1:n.2723A>G
ENST00000637044.1:c.*2693A>G	ENSP00000490684.1:n.*2693A>G
ENST00000638159.1:c.*1548A>G	ENSP00000490360.1:n.*1548A>G
ENST00000393943.9:c.*1548A>G	ENSP00000377517.4:n.*1548A>G
ENST00000428797.7:c.*1548A>G	ENSP00000393097.2:n.*1548A>G
ENST00000437025.6:c.*1548A>G	ENSP00000415441.2:n.*1548A>G
NM_000806.5:c.*1548A>G	NP_000797.2:n.*1548A>G
NM_001127643.1:c.*1548A>G	NP_001121115.1:n.*1548A>G
NM_001127644.1:c.*1548A>G	NP_001121116.1:n.*1548A>G
NM_001127645.1:c.*1548A>G	NP_001121117.1:n.*1548A>G
NM_001127648.1:c.*1548A>G	NP_001121120.1:n.*1548A>G
NM_001127644.2:c.*1548A>G MANE Select	NP_001121116.1:n.*1548A>G
NM_001127643.2:c.*1548A>G	NP_001121115.1:n.*1548A>G
NM_001127645.2:c.*1548A>G	NP_001121117.1:n.*1548A>G
NM_001127648.2:c.*1548A>G	NP_001121120.1:n.*1548A>G