Canonical Allele Identifier: CA10623904

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 352614
• ClinVar RCV Id: RCV000319995
• dbSNP Id: rs998754
• gnomAD v2: 5-161325934-A-C
• gnomAD v3: 5-161898928-A-C
• gnomAD v4: 5-161898928-A-C
• MyVariant Identifiers: chr5:g.161325934A>C (hg19) ; chr5:g.161898928A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161898928A>C , CM000667.2:g.161898928A>C	GRCh38
NC_000005.9:g.161325934A>C , CM000667.1:g.161325934A>C	GRCh37
NC_000005.8:g.161258512A>C	NCBI36
NG_011548.1:g.56738A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.*1506A>C MANE Select	ENSP00000377517.4:n.*1506A>C
ENST00000636408.1:n.2681A>C
ENST00000637044.1:c.*2651A>C	ENSP00000490684.1:n.*2651A>C
ENST00000638159.1:c.*1506A>C	ENSP00000490360.1:n.*1506A>C
ENST00000393943.9:c.*1506A>C	ENSP00000377517.4:n.*1506A>C
ENST00000428797.7:c.*1506A>C	ENSP00000393097.2:n.*1506A>C
ENST00000437025.6:c.*1506A>C	ENSP00000415441.2:n.*1506A>C
NM_000806.5:c.*1506A>C	NP_000797.2:n.*1506A>C
NM_001127643.1:c.*1506A>C	NP_001121115.1:n.*1506A>C
NM_001127644.1:c.*1506A>C	NP_001121116.1:n.*1506A>C
NM_001127645.1:c.*1506A>C	NP_001121117.1:n.*1506A>C
NM_001127648.1:c.*1506A>C	NP_001121120.1:n.*1506A>C
NM_001127644.2:c.*1506A>C MANE Select	NP_001121116.1:n.*1506A>C
NM_001127643.2:c.*1506A>C	NP_001121115.1:n.*1506A>C
NM_001127645.2:c.*1506A>C	NP_001121117.1:n.*1506A>C
NM_001127648.2:c.*1506A>C	NP_001121120.1:n.*1506A>C