Canonical Allele Identifier: CA131081746

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 904955
• ClinVar RCV Id: RCV001153188
• dbSNP Id: rs547029877
• gnomAD v2: 5-161275282-G-A
• gnomAD v3: 5-161848276-G-A
• gnomAD v4: 5-161848276-G-A
• MyVariant Identifiers: chr5:g.161275282G>A (hg19) ; chr5:g.161848276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848276G>A , CM000667.2:g.161848276G>A	GRCh38
NC_000005.9:g.161275282G>A , CM000667.1:g.161275282G>A	GRCh37
NC_000005.8:g.161207860G>A	NCBI36
NG_011548.1:g.6086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-162G>A MANE Select	ENSP00000377517.4:n.-162G>A
ENST00000635916.2:n.614G>A
ENST00000637044.1:c.-162G>A	ENSP00000490684.1:n.-162G>A
ENST00000638112.1:c.-162G>A	ENSP00000489839.1:n.-162G>A
ENST00000023897.10:c.-162G>A	ENSP00000023897.6:n.-162G>A
ENST00000393943.9:c.-162G>A	ENSP00000377517.4:n.-162G>A
ENST00000428797.7:c.-162G>A	ENSP00000393097.2:n.-162G>A
ENST00000635096.1:c.-162G>A	ENSP00000489033.1:n.-162G>A
NM_000806.5:c.-162G>A	NP_000797.2:n.-162G>A
NM_001127643.1:c.-162G>A	NP_001121115.1:n.-162G>A
NM_001127644.1:c.-162G>A	NP_001121116.1:n.-162G>A
XR_941158.3:n.89+2244C>T
NM_001127644.2:c.-162G>A MANE Select	NP_001121116.1:n.-162G>A
NM_001127643.2:c.-162G>A	NP_001121115.1:n.-162G>A