Canonical Allele Identifier: CA362180276

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 1378537
• ClinVar RCV Id: RCV001881188 ; RCV003134185
• dbSNP Id: rs2113464702
• gnomAD v4: 5-161895764-G-A
• MyVariant Identifiers: chr5:g.161322770G>A (hg19) ; chr5:g.161895764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895764G>A , CM000667.2:g.161895764G>A	GRCh38
NC_000005.9:g.161322770G>A , CM000667.1:g.161322770G>A	GRCh37
NC_000005.8:g.161255348G>A	NCBI36
NG_011548.1:g.53574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.955G>A MANE Select	ENSP00000377517.4:p.Val319Met
ENST00000635880.1:c.955G>A	ENSP00000489738.1:p.Val319Met
ENST00000635916.2:n.2556G>A
ENST00000636340.1:c.*804G>A	ENSP00000490002.1:n.*804G>A
ENST00000636408.1:n.759G>A
ENST00000636573.1:c.955G>A	ENSP00000490320.1:p.Val319Met
ENST00000637044.1:c.*729G>A	ENSP00000490684.1:n.*729G>A
ENST00000637827.1:c.955G>A	ENSP00000490804.1:p.Val319Met
ENST00000638112.1:c.955G>A	ENSP00000489839.1:p.Val319Met
ENST00000638159.1:c.1000G>A	ENSP00000490360.1:p.Val334Met
ENST00000023897.10:c.955G>A	ENSP00000023897.6:p.Val319Met
ENST00000393943.9:c.955G>A	ENSP00000377517.4:p.Val319Met
ENST00000428797.7:c.955G>A	ENSP00000393097.2:p.Val319Met
ENST00000437025.6:c.955G>A	ENSP00000415441.2:p.Val319Met
NM_000806.5:c.955G>A	NP_000797.2:p.Val319Met
NM_001127643.1:c.955G>A	NP_001121115.1:p.Val319Met
NM_001127644.1:c.955G>A	NP_001121116.1:p.Val319Met
NM_001127645.1:c.955G>A	NP_001121117.1:p.Val319Met
NM_001127648.1:c.955G>A	NP_001121120.1:p.Val319Met
NM_001127644.2:c.955G>A MANE Select	NP_001121116.1:p.Val319Met
NM_001127643.2:c.955G>A	NP_001121115.1:p.Val319Met
NM_001127645.2:c.955G>A	NP_001121117.1:p.Val319Met
NM_001127648.2:c.955G>A	NP_001121120.1:p.Val319Met