Canonical Allele Identifier: CA10619904

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 352606
• ClinVar RCV Id: RCV000366656
• dbSNP Id: rs541504060
• gnomAD v2: 5-161324829-G-A
• gnomAD v3: 5-161897823-G-A
• gnomAD v4: 5-161897823-G-A
• MyVariant Identifiers: chr5:g.161324829G>A (hg19) ; chr5:g.161897823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161897823G>A , CM000667.2:g.161897823G>A	GRCh38
NC_000005.9:g.161324829G>A , CM000667.1:g.161324829G>A	GRCh37
NC_000005.8:g.161257407G>A	NCBI36
NG_011548.1:g.55633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.*401G>A MANE Select	ENSP00000377517.4:n.*401G>A
ENST00000635916.2:n.4615G>A
ENST00000636340.1:c.*1621G>A	ENSP00000490002.1:n.*1621G>A
ENST00000636408.1:n.1576G>A
ENST00000636573.1:c.*401G>A	ENSP00000490320.1:n.*401G>A
ENST00000637044.1:c.*1546G>A	ENSP00000490684.1:n.*1546G>A
ENST00000638112.1:c.*401G>A	ENSP00000489839.1:n.*401G>A
ENST00000638159.1:c.*401G>A	ENSP00000490360.1:n.*401G>A
ENST00000393943.9:c.*401G>A	ENSP00000377517.4:n.*401G>A
ENST00000428797.7:c.*401G>A	ENSP00000393097.2:n.*401G>A
ENST00000437025.6:c.*401G>A	ENSP00000415441.2:n.*401G>A
NM_000806.5:c.*401G>A	NP_000797.2:n.*401G>A
NM_001127643.1:c.*401G>A	NP_001121115.1:n.*401G>A
NM_001127644.1:c.*401G>A	NP_001121116.1:n.*401G>A
NM_001127645.1:c.*401G>A	NP_001121117.1:n.*401G>A
NM_001127648.1:c.*401G>A	NP_001121120.1:n.*401G>A
NM_001127644.2:c.*401G>A MANE Select	NP_001121116.1:n.*401G>A
NM_001127643.2:c.*401G>A	NP_001121115.1:n.*401G>A
NM_001127645.2:c.*401G>A	NP_001121117.1:n.*401G>A
NM_001127648.2:c.*401G>A	NP_001121120.1:n.*401G>A