Canonical Allele Identifier: CA447608913

Gene: GABRA1

Linked Data

• dbSNP Id: rs1266985254
• gnomAD v2: 5-161300131-A-C
• gnomAD v4: 5-161873125-A-C
• MyVariant Identifiers: chr5:g.161300131A>C (hg19) ; chr5:g.161873125A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161873125A>C , CM000667.2:g.161873125A>C	GRCh38
NC_000005.9:g.161300131A>C , CM000667.1:g.161300131A>C	GRCh37
NC_000005.8:g.161232709A>C	NCBI36
NG_011548.1:g.30935A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.264A>C MANE Select	ENSP00000377517.4:p.Thr88=
ENST00000635880.1:c.264A>C	ENSP00000489738.1:p.Thr88=
ENST00000635916.2:n.1039A>C
ENST00000636340.1:c.*113A>C	ENSP00000490002.1:n.*113A>C
ENST00000636408.1:n.68A>C
ENST00000636573.1:c.264A>C	ENSP00000490320.1:p.Thr88=
ENST00000637044.1:c.*38A>C	ENSP00000490684.1:n.*38A>C
ENST00000637827.1:c.264A>C	ENSP00000490804.1:p.Thr88=
ENST00000638112.1:c.264A>C	ENSP00000489839.1:p.Thr88=
ENST00000638159.1:c.309A>C	ENSP00000490360.1:p.Thr103=
ENST00000023897.10:c.264A>C	ENSP00000023897.6:p.Thr88=
ENST00000393943.9:c.264A>C	ENSP00000377517.4:p.Thr88=
ENST00000428797.7:c.264A>C	ENSP00000393097.2:p.Thr88=
ENST00000437025.6:c.264A>C	ENSP00000415441.2:p.Thr88=
ENST00000519542.1:n.28A>C
ENST00000519621.2:c.264A>C	ENSP00000430435.2:p.Thr88=
ENST00000522651.6:c.327A>C	ENSP00000430507.2:p.Thr109=
ENST00000634335.1:c.264A>C	ENSP00000489434.1:p.Thr88=
NM_000806.5:c.264A>C	NP_000797.2:p.Thr88=
NM_001127643.1:c.264A>C	NP_001121115.1:p.Thr88=
NM_001127644.1:c.264A>C	NP_001121116.1:p.Thr88=
NM_001127645.1:c.264A>C	NP_001121117.1:p.Thr88=
NM_001127648.1:c.264A>C	NP_001121120.1:p.Thr88=
NM_001127644.2:c.264A>C MANE Select	NP_001121116.1:p.Thr88=
NM_001127643.2:c.264A>C	NP_001121115.1:p.Thr88=
NM_001127645.2:c.264A>C	NP_001121117.1:p.Thr88=
NM_001127648.2:c.264A>C	NP_001121120.1:p.Thr88=