Canonical Allele Identifier: CA3544297

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 507422
• ClinVar RCV Id: RCV000600294
• dbSNP Id: rs534129599
• ExAC: 5:161277779 T / A
• gnomAD v2: 5-161277779-T-A
• gnomAD v3: 5-161850773-T-A
• gnomAD v4: 5-161850773-T-A
• MyVariant Identifiers: chr5:g.161277779T>A (hg19) ; chr5:g.161850773T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161850773T>A , CM000667.2:g.161850773T>A	GRCh38
NC_000005.9:g.161277779T>A , CM000667.1:g.161277779T>A	GRCh37
NC_000005.8:g.161210357T>A	NCBI36
NG_011548.1:g.8583T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-15-23T>A MANE Select	ENSP00000377517.4:n.-15-23T>A
ENST00000635880.1:c.-15-23T>A	ENSP00000489738.1:n.-15-23T>A
ENST00000635916.2:n.761-23T>A
ENST00000636340.1:c.-15-23T>A	ENSP00000490002.1:n.-15-23T>A
ENST00000636573.1:c.-15-23T>A	ENSP00000490320.1:n.-15-23T>A
ENST00000637044.1:c.-15-23T>A	ENSP00000490684.1:n.-15-23T>A
ENST00000637620.1:n.61-23T>A
ENST00000637827.1:c.-15-23T>A	ENSP00000490804.1:n.-15-23T>A
ENST00000638112.1:c.-15-23T>A	ENSP00000489839.1:n.-15-23T>A
ENST00000638159.1:c.31-23T>A	ENSP00000490360.1:n.31-23T>A
ENST00000023897.10:c.-15-23T>A	ENSP00000023897.6:n.-15-23T>A
ENST00000393943.9:c.-15-23T>A	ENSP00000377517.4:n.-15-23T>A
ENST00000428797.7:c.-15-23T>A	ENSP00000393097.2:n.-15-23T>A
ENST00000437025.6:c.-15-23T>A	ENSP00000415441.2:n.-15-23T>A
ENST00000519621.2:c.-6-32T>A	ENSP00000430435.2:n.-6-32T>A
ENST00000521339.5:c.4-23T>A	ENSP00000430895.1:n.4-23T>A
ENST00000522651.6:c.49-23T>A	ENSP00000430507.2:n.49-23T>A
ENST00000634335.1:c.-38T>A	ENSP00000489434.1:n.-38T>A
ENST00000635096.1:c.-15-23T>A	ENSP00000489033.1:n.-15-23T>A
NM_000806.5:c.-15-23T>A	NP_000797.2:n.-15-23T>A
NM_001127643.1:c.-15-23T>A	NP_001121115.1:n.-15-23T>A
NM_001127644.1:c.-15-23T>A	NP_001121116.1:n.-15-23T>A
NM_001127645.1:c.-15-23T>A	NP_001121117.1:n.-15-23T>A
NM_001127648.1:c.-38T>A	NP_001121120.1:n.-38T>A
NM_001127644.2:c.-15-23T>A MANE Select	NP_001121116.1:n.-15-23T>A
NM_001127643.2:c.-15-23T>A	NP_001121115.1:n.-15-23T>A
NM_001127645.2:c.-15-23T>A	NP_001121117.1:n.-15-23T>A
NM_001127648.2:c.-38T>A	NP_001121120.1:n.-38T>A