Canonical Allele Identifier: CA3544142

Gene: GABRA6

Linked Data

• ClinVar Variation Id: 1168450
• ClinVar RCV Id: RCV001518717 ; RCV004541967
• dbSNP Id: rs34907804
• ExAC: 5:161128627 C / T
• gnomAD v2: 5-161128627-C-T
• gnomAD v3: 5-161701621-C-T
• gnomAD v4: 5-161701621-C-T
• MyVariant Identifiers: chr5:g.161128627C>T (hg19) ; chr5:g.161701621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161701621C>T , CM000667.2:g.161701621C>T	GRCh38
NC_000005.9:g.161128627C>T , CM000667.1:g.161128627C>T	GRCh37
NC_000005.8:g.161061205C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274545.10:c.1210C>T MANE Select	ENSP00000274545.5:p.Pro404Ser
ENST00000274545.9:c.1210C>T	ENSP00000274545.5:p.Pro404Ser
ENST00000521520.1:n.1203C>T
ENST00000523217.5:c.1180C>T	ENSP00000430527.1:p.Pro394Ser
NM_000811.2:c.1210C>T	NP_000802.2:p.Pro404Ser
NM_000811.3:c.1210C>T MANE Select	NP_000802.2:p.Pro404Ser