Canonical Allele Identifier: CA658796670

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 512177
• ClinVar RCV Id: RCV000599654
• dbSNP Id: rs1402044979
• gnomAD v3: 5-161848197-A-T
• gnomAD v4: 5-161848197-A-T
• MyVariant Identifiers: chr5:g.161275203A>T (hg19) ; chr5:g.161848197A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848197A>T , CM000667.2:g.161848197A>T	GRCh38
NC_000005.9:g.161275203A>T , CM000667.1:g.161275203A>T	GRCh37
NC_000005.8:g.161207781A>T	NCBI36
NG_011548.1:g.6007A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-241A>T MANE Select	ENSP00000377517.4:n.-241A>T
ENST00000635916.2:n.535A>T
ENST00000638112.1:c.-241A>T	ENSP00000489839.1:n.-241A>T
ENST00000023897.10:c.-241A>T	ENSP00000023897.6:n.-241A>T
ENST00000393943.9:c.-241A>T	ENSP00000377517.4:n.-241A>T
ENST00000428797.7:c.-241A>T	ENSP00000393097.2:n.-241A>T
ENST00000635096.1:c.-241A>T	ENSP00000489033.1:n.-241A>T
NM_000806.5:c.-241A>T	NP_000797.2:n.-241A>T
NM_001127643.1:c.-241A>T	NP_001121115.1:n.-241A>T
NM_001127644.1:c.-241A>T	NP_001121116.1:n.-241A>T
XR_941158.3:n.89+2323T>A
NM_001127644.2:c.-241A>T MANE Select	NP_001121116.1:n.-241A>T
NM_001127643.2:c.-241A>T	NP_001121115.1:n.-241A>T