Canonical Allele Identifier: CA447690792
Gene: GABRA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 477865
ClinVar RCV Id: RCV000538791
dbSNP Id: rs1400096249
gnomAD v2: 5-161116320-T-C
gnomAD v3: 5-161689314-T-C
gnomAD v4: 5-161689314-T-C
MyVariant Identifiers: chr5:g.161116320T>C (hg19) chr5:g.161689314T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161689314T>C , CM000667.2:g.161689314T>C GRCh38
NC_000005.9:g.161116320T>C , CM000667.1:g.161116320T>C GRCh37
NC_000005.8:g.161048898T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274545.10:c.507T>C MANE Select ENSP00000274545.5:p.Ala169=
ENST00000274545.9:c.507T>C ENSP00000274545.5:p.Ala169=
ENST00000517823.5:c.348T>C ENSP00000430212.1:p.Ala116=
ENST00000520000.5:c.326T>C
ENST00000523217.5:c.477T>C ENSP00000430527.1:p.Ala159=
ENST00000523691.1:c.192T>C ENSP00000427989.1:p.Ala64=
NM_000811.2:c.507T>C NP_000802.2:p.Ala169=
NM_000811.3:c.507T>C MANE Select NP_000802.2:p.Ala169=
Search 100 bp 5'
Search 100 bp 3'