Canonical Allele Identifier: CA131087977

Gene: GABRA1

Linked Data

• dbSNP Id: rs539475780
• gnomAD v3: 5-161897829-C-T
• gnomAD v4: 5-161897829-C-T
• MyVariant Identifiers: chr5:g.161324835C>T (hg19) ; chr5:g.161897829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161897829C>T , CM000667.2:g.161897829C>T	GRCh38
NC_000005.9:g.161324835C>T , CM000667.1:g.161324835C>T	GRCh37
NC_000005.8:g.161257413C>T	NCBI36
NG_011548.1:g.55639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.*407C>T MANE Select	ENSP00000377517.4:n.*407C>T
ENST00000635916.2:n.4621C>T
ENST00000636340.1:c.*1627C>T	ENSP00000490002.1:n.*1627C>T
ENST00000636408.1:n.1582C>T
ENST00000636573.1:c.*407C>T	ENSP00000490320.1:n.*407C>T
ENST00000637044.1:c.*1552C>T	ENSP00000490684.1:n.*1552C>T
ENST00000638112.1:c.*407C>T	ENSP00000489839.1:n.*407C>T
ENST00000638159.1:c.*407C>T	ENSP00000490360.1:n.*407C>T
ENST00000393943.9:c.*407C>T	ENSP00000377517.4:n.*407C>T
ENST00000428797.7:c.*407C>T	ENSP00000393097.2:n.*407C>T
ENST00000437025.6:c.*407C>T	ENSP00000415441.2:n.*407C>T
NM_000806.5:c.*407C>T	NP_000797.2:n.*407C>T
NM_001127643.1:c.*407C>T	NP_001121115.1:n.*407C>T
NM_001127644.1:c.*407C>T	NP_001121116.1:n.*407C>T
NM_001127645.1:c.*407C>T	NP_001121117.1:n.*407C>T
NM_001127648.1:c.*407C>T	NP_001121120.1:n.*407C>T
NM_001127644.2:c.*407C>T MANE Select	NP_001121116.1:n.*407C>T
NM_001127643.2:c.*407C>T	NP_001121115.1:n.*407C>T
NM_001127645.2:c.*407C>T	NP_001121117.1:n.*407C>T
NM_001127648.2:c.*407C>T	NP_001121120.1:n.*407C>T