Canonical Allele Identifier: CA3544012

Gene: GABRA6

Linked Data

• ClinVar Variation Id: 707554
• ClinVar RCV Id: RCV004541772 ; RCV000878598
• dbSNP Id: rs150866100
• ExAC: 5:161117338 G / A
• gnomAD v2: 5-161117338-G-A
• gnomAD v3: 5-161690332-G-A
• gnomAD v4: 5-161690332-G-A
• MyVariant Identifiers: chr5:g.161117338G>A (hg19) ; chr5:g.161690332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161690332G>A , CM000667.2:g.161690332G>A	GRCh38
NC_000005.9:g.161117338G>A , CM000667.1:g.161117338G>A	GRCh37
NC_000005.8:g.161049916G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274545.10:c.805G>A MANE Select	ENSP00000274545.5:p.Val269Ile
ENST00000274545.9:c.805G>A	ENSP00000274545.5:p.Val269Ile
ENST00000521520.1:n.798G>A
ENST00000523217.5:c.775G>A	ENSP00000430527.1:p.Val259Ile
ENST00000523691.1:c.565G>A	ENSP00000427989.1:p.Val189Ile
NM_000811.2:c.805G>A	NP_000802.2:p.Val269Ile
NM_000811.3:c.805G>A MANE Select	NP_000802.2:p.Val269Ile