Canonical Allele Identifier: CA10624013

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 352591
• ClinVar RCV Id: RCV000399682
• dbSNP Id: rs886060359
• gnomAD v3: 5-161848243-A-G
• gnomAD v4: 5-161848243-A-G
• MyVariant Identifiers: chr5:g.161275249A>G (hg19) ; chr5:g.161848243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848243A>G , CM000667.2:g.161848243A>G	GRCh38
NC_000005.9:g.161275249A>G , CM000667.1:g.161275249A>G	GRCh37
NC_000005.8:g.161207827A>G	NCBI36
NG_011548.1:g.6053A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-195A>G MANE Select	ENSP00000377517.4:n.-195A>G
ENST00000635916.2:n.581A>G
ENST00000638112.1:c.-195A>G	ENSP00000489839.1:n.-195A>G
ENST00000023897.10:c.-195A>G	ENSP00000023897.6:n.-195A>G
ENST00000393943.9:c.-195A>G	ENSP00000377517.4:n.-195A>G
ENST00000428797.7:c.-195A>G	ENSP00000393097.2:n.-195A>G
ENST00000635096.1:c.-195A>G	ENSP00000489033.1:n.-195A>G
NM_000806.5:c.-195A>G	NP_000797.2:n.-195A>G
NM_001127643.1:c.-195A>G	NP_001121115.1:n.-195A>G
NM_001127644.1:c.-195A>G	NP_001121116.1:n.-195A>G
XR_941158.3:n.89+2277T>C
NM_001127644.2:c.-195A>G MANE Select	NP_001121116.1:n.-195A>G
NM_001127643.2:c.-195A>G	NP_001121115.1:n.-195A>G