Canonical Allele Identifier: CA362180335

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 2413038
• ClinVar RCV Id: RCV003110053
• MyVariant Identifiers: chr5:g.161322797C>G (hg19) ; chr5:g.161895791C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895791C>G , CM000667.2:g.161895791C>G	GRCh38
NC_000005.9:g.161322797C>G , CM000667.1:g.161322797C>G	GRCh37
NC_000005.8:g.161255375C>G	NCBI36
NG_011548.1:g.53601C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.982C>G MANE Select	ENSP00000377517.4:p.Leu328Val
ENST00000635880.1:c.982C>G	ENSP00000489738.1:p.Leu328Val
ENST00000635916.2:n.2583C>G
ENST00000636340.1:c.*831C>G	ENSP00000490002.1:n.*831C>G
ENST00000636408.1:n.786C>G
ENST00000636573.1:c.982C>G	ENSP00000490320.1:p.Leu328Val
ENST00000637044.1:c.*756C>G	ENSP00000490684.1:n.*756C>G
ENST00000637827.1:c.982C>G	ENSP00000490804.1:p.Leu328Val
ENST00000638112.1:c.982C>G	ENSP00000489839.1:p.Leu328Val
ENST00000638159.1:c.1027C>G	ENSP00000490360.1:p.Leu343Val
ENST00000023897.10:c.982C>G	ENSP00000023897.6:p.Leu328Val
ENST00000393943.9:c.982C>G	ENSP00000377517.4:p.Leu328Val
ENST00000428797.7:c.982C>G	ENSP00000393097.2:p.Leu328Val
ENST00000437025.6:c.982C>G	ENSP00000415441.2:p.Leu328Val
NM_000806.5:c.982C>G	NP_000797.2:p.Leu328Val
NM_001127643.1:c.982C>G	NP_001121115.1:p.Leu328Val
NM_001127644.1:c.982C>G	NP_001121116.1:p.Leu328Val
NM_001127645.1:c.982C>G	NP_001121117.1:p.Leu328Val
NM_001127648.1:c.982C>G	NP_001121120.1:p.Leu328Val
NM_001127644.2:c.982C>G MANE Select	NP_001121116.1:p.Leu328Val
NM_001127643.2:c.982C>G	NP_001121115.1:p.Leu328Val
NM_001127645.2:c.982C>G	NP_001121117.1:p.Leu328Val
NM_001127648.2:c.982C>G	NP_001121120.1:p.Leu328Val