Canonical Allele Identifier: CA3543858
Gene: GABRA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 477863
ClinVar RCV Id: RCV000550364
dbSNP Id: rs113239794
ExAC: 5:161116068 G / A
gnomAD v2: 5-161116068-G-A
gnomAD v3: 5-161689062-G-A
gnomAD v4: 5-161689062-G-A
MyVariant Identifiers: chr5:g.161116068G>A (hg19) chr5:g.161689062G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161689062G>A , CM000667.2:g.161689062G>A GRCh38
NC_000005.9:g.161116068G>A , CM000667.1:g.161116068G>A GRCh37
NC_000005.8:g.161048646G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274545.10:c.339G>A MANE Select ENSP00000274545.5:p.Thr113=
ENST00000274545.9:c.339G>A ENSP00000274545.5:p.Thr113=
ENST00000517823.5:c.180G>A ENSP00000430212.1:p.Thr60=
ENST00000520000.5:c.158G>A
ENST00000523217.5:c.309G>A ENSP00000430527.1:p.Thr103=
ENST00000523691.1:c.24G>A ENSP00000427989.1:p.Thr8=
ENST00000524220.1:n.469G>A
NM_000811.2:c.339G>A NP_000802.2:p.Thr113=
NM_000811.3:c.339G>A MANE Select NP_000802.2:p.Thr113=
Search 100 bp 5'
Search 100 bp 3'