Canonical Allele Identifier: CA11950599
Gene: GABRA6 HGNC NCBI
GABRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.161548936T>C
GRCh37 chr5:g.160975942T>C
gnomAD v2:
5:160975942 T / C
gnomAD v3:
5:161548936 T / C
gnomAD v4:
chr5-161548936-T-C
Joint Max Group AF 0.40671152 (AMR)
Genomes Max Group AF 0.40671152 (AMR)
Exomes Max Group AF 0.27973088 (NFE)
dbSNP:
3811996
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161548936T>C , CM000667.2:g.161548936T>C GRCh38
NC_000005.9:g.160975942T>C , CM000667.1:g.160975942T>C GRCh37
NC_000005.8:g.160908520T>C NCBI36
NG_047050.1:g.4189A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000522269.5:n.41+1833T>C (GABRA6)
ENST00000523730.1:n.109A>G (GABRB2)
Search 100 bp 5'
Search 100 bp 3'